Canonical Allele Identifier: CA1129714823

Gene: ABO

Linked Data

• gnomAD v3: 9-133255436-GTGTGTGTGTGATTTTGTGTCTGTGTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTCTCTGTGGT-G
• gnomAD v4: 9-133255436-GTGTGTGTGTGATTTTGTGTCTGTGTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTCTCTGTGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255437_133255506del , CM000671.2:g.133255437_133255506del	GRCh38
NC_000009.11:g.136130824_136130893del , CM000671.1:g.136130824_136130893del	GRCh37
NC_000009.10:g.135120645_135120714del	NCBI36
NG_006669.1:g.22162_22231del
NG_006669.2:g.24710_24779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1254_1323del
ENST00000647353.1:n.54-4354_54-4285del
ENST00000679909.1:c.28+19656_28+19725del	ENSP00000506089.1:n.28+19656_28+19725del
ENST00000453660.3:n.1236_1305del
ENST00000611156.4:c.*160_*229del	ENSP00000483265.1:n.*160_*229del
NM_020469.2:c.*160_*229del	NP_065202.2:n.*160_*229del
NM_020469.3:c.*160_*229del	NP_065202.2:n.*160_*229del