Canonical Allele Identifier: CA2954284196
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255986_133255987insA , CM000671.2:g.133255986_133255987insA GRCh38
NC_000009.11:g.136131373_136131374insA , CM000671.1:g.136131373_136131374insA GRCh37
NC_000009.10:g.135121194_135121195insA NCBI36
NG_006669.1:g.21681_21682insT
NG_006669.2:g.24229_24230insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.773_774insT
ENST00000647353.1:n.54-4835_54-4834insT
ENST00000679909.1:c.28+19175_28+19176insT ENSP00000506089.1:n.28+19175_28+19176insT
ENST00000453660.3:n.755_756insT
ENST00000538324.2:c.741_742insT ENSP00000483018.1:p.Arg248SerfsTer?
ENST00000611156.4:c.741_742insT ENSP00000483265.1:p.Arg248SerfsTer?
NM_020469.2:c.744_745insT NP_065202.2:p.Arg249SerfsTer?
NM_020469.3:c.744_745insT NP_065202.2:p.Arg249SerfsTer?