Canonical Allele Identifier: CA1882578740

Gene: ABO

Linked Data

• dbSNP Id: rs1834549695
• gnomAD v4: 9-133255450-TTGTGTCTGTGTGTGTCTTTCTGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255462_133255485del , CM000671.2:g.133255462_133255485del	GRCh38
NC_000009.11:g.136130849_136130872del , CM000671.1:g.136130849_136130872del	GRCh37
NC_000009.10:g.135120670_135120693del	NCBI36
NG_006669.1:g.22194_22217del
NG_006669.2:g.24742_24765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1286_1309del
ENST00000647353.1:n.54-4322_54-4299del
ENST00000679909.1:c.28+19688_28+19711del	ENSP00000506089.1:n.28+19688_28+19711del
ENST00000453660.3:n.1268_1291del
ENST00000611156.4:c.*192_*215del	ENSP00000483265.1:n.*192_*215del
NM_020469.2:c.*192_*215del	NP_065202.2:n.*192_*215del
NM_020469.3:c.*192_*215del	NP_065202.2:n.*192_*215del