Canonical Allele Identifier: CA2840305264
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256207dup , CM000671.2:g.133256207dup GRCh38
NC_000009.11:g.136131594dup , CM000671.1:g.136131594dup GRCh37
NC_000009.10:g.135121415dup NCBI36
NG_006669.1:g.21461dup
NG_006669.2:g.24009dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.553dup
ENST00000647353.1:n.54-5055dup
ENST00000651471.1:n.479dup
ENST00000679909.1:c.28+18955dup ENSP00000506089.1:n.28+18955dup
ENST00000453660.3:n.535dup
ENST00000538324.2:c.521dup ENSP00000483018.1:p.Arg175AlafsTer19
ENST00000611156.4:c.521dup ENSP00000483265.1:p.Arg175AlafsTer19
NM_020469.2:c.524dup NP_065202.2:p.Arg176AlafsTer19
NM_020469.3:c.524dup NP_065202.2:p.Arg176AlafsTer19