Canonical Allele Identifier: CA2692330356
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256065del , CM000671.2:g.133256065del GRCh38
NC_000009.11:g.136131452del , CM000671.1:g.136131452del GRCh37
NC_000009.10:g.135121273del NCBI36
NG_006669.1:g.21604del
NG_006669.2:g.24152del

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.696del
ENST00000647353.1:n.54-4912del
ENST00000679909.1:c.28+19098del ENSP00000506089.1:n.28+19098del
ENST00000453660.3:n.678del
ENST00000538324.2:c.664del ENSP00000483018.1:p.Glu222ArgfsTer3
ENST00000611156.4:c.664del ENSP00000483265.1:p.Glu222ArgfsTer3
NM_020469.2:c.667del NP_065202.2:p.Glu223ArgfsTer3
NM_020469.3:c.667del NP_065202.2:p.Glu223ArgfsTer3