Canonical Allele Identifier: CA1129714824

Gene: ABO

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255437_133255511del , CM000671.2:g.133255437_133255511del	GRCh38
NC_000009.11:g.136130824_136130898del , CM000671.1:g.136130824_136130898del	GRCh37
NC_000009.10:g.135120645_135120719del	NCBI36
NG_006669.1:g.22157_22231del
NG_006669.2:g.24705_24779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1249_1323del
ENST00000647353.1:n.54-4359_54-4285del
ENST00000679909.1:c.28+19651_28+19725del	ENSP00000506089.1:n.28+19651_28+19725del
ENST00000453660.3:n.1231_1305del
ENST00000611156.4:c.*155_*229del	ENSP00000483265.1:n.*155_*229del
NM_020469.2:c.*155_*229del	NP_065202.2:n.*155_*229del
NM_020469.3:c.*155_*229del	NP_065202.2:n.*155_*229del