Version 7

Removed 3-30-42*01 after further review, as it is a pseudogene and there are no known ORFs at that gene position.

Version 6

Added IGHV3-30-42*01, a paralog of IGHV3-29*01. The existence of this sequence at gene position 3-30-42 was reported in Watson et al., “Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation”, 2013. Existence of the sequence in AIRR-seq repertoires is confirmed by VDJbase sample P1_I64_S1.

Version 5

Added IGHD2-21*01, IGHD2-8*02 having considered support for these alleles in Rodriguez et. al., DOI 10.1038/s41467-023-40070-x and published in VDJbase

Added likely extensions to IGHV4-30-4*i02(A), IGHV4-4*10(A) and IGHV5-51*06(CA) based on the sequences of other alleles.

Version 4

Added 31 IGHV alleles and 3 IGHD alleles that are supported by data reported by Rodriguez et. al., DOI 10.1038/s41467-023-40070-x and published in VDJbase. The IGHV alleles and IGHD5-18*02 are supported by other observations reported in GenBank. IGHD3-10*03 and IGHD3-16*03 are observed in 14+ subjects studied by Rodriguez et al. and this is considered to provide sufficient confidence for their inclusion.

Version 3

Putative extensions were removed from alleles IGHV4-4*10, IGHV5-51*06 and IGHV4-30-3*i02 because, after further review, it was decided that the extensions had insufficient support.

Version 2

Alleles removed from this version:

IGHD2-21*01, IGHD2-8*02 – Genomic evidence for these sequences (AH002720, 1981) is not considered sufficiently strong without more recent evidence.

IGHV3-42D*01 – This sequence has good overall alignment with that of the closest functional allele IGHV3-72*01, and the leader intron and L-PART2 are in good agreement. In this alignment, however, there are multiple stop codons in the coding region. We consider this alignment to be more representative than that previously shown, which identified an ORF in the coding region by extending 2nt at the 5’ end, hence breaking the alignment with IGHV3-72*01. In the preferred alignment, the absence of an ORF excludes this allele from the germline set.