Canonical Allele Identifier: CA1129714612

Gene: ABO

Linked Data

• gnomAD v3: 9-133255226-GAGGGGCTGCGTGTGATTGTGTGTCTGTGTGTGTCTTTCTGTGTATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGA-G
• gnomAD v4: 9-133255226-GAGGGGCTGCGTGTGATTGTGTGTCTGTGTGTGTCTTTCTGTGTATGTGTGTGTAATGGTGTGTTTCTGTGGCCGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255231_133255306del , CM000671.2:g.133255231_133255306del	GRCh38
NC_000009.11:g.136130618_136130693del , CM000671.1:g.136130618_136130693del	GRCh37
NC_000009.10:g.135120439_135120514del	NCBI36
NG_006669.1:g.22366_22441del
NG_006669.2:g.24914_24989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1458_1533del
ENST00000647353.1:n.54-4150_54-4075del
ENST00000679909.1:c.28+19860_28+19935del	ENSP00000506089.1:n.28+19860_28+19935del
ENST00000453660.3:n.1440_1515del
ENST00000611156.4:c.*364_*439del	ENSP00000483265.1:n.*364_*439del
NM_020469.2:c.*364_*439del	NP_065202.2:n.*364_*439del
NM_020469.3:c.*364_*439del	NP_065202.2:n.*364_*439del