Canonical Allele Identifier: CA2954282333
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257524dup , CM000671.2:g.133257524dup GRCh38
NC_000009.11:g.136132911dup , CM000671.1:g.136132911dup GRCh37
NC_000009.10:g.135122732dup NCBI36
NG_006669.1:g.20144dup
NG_006669.2:g.22692dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.289dup
ENST00000647353.1:n.54-6371dup
ENST00000651471.1:n.329+519dup
ENST00000679909.1:c.28+17639dup ENSP00000506089.1:n.28+17639dup
ENST00000453660.3:n.271dup
ENST00000538324.2:c.259-2dup
ENST00000611156.4:c.259-2dup
NM_020469.2:c.259dup NP_065202.2:p.Val87GlyfsTer?
NM_020469.3:c.259dup NP_065202.2:p.Val87GlyfsTer?