Canonical Allele Identifier: CA2692330312

Gene: ABO

Linked Data

• gnomAD v4: 9-133255436-GTGTGTGTGTGATTTTGTGTCTGTGTGTGTCTTTCTGTGTGTGTCTGTGTATGTAATGGTGTCTCTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255437_133255503del , CM000671.2:g.133255437_133255503del	GRCh38
NC_000009.11:g.136130824_136130890del , CM000671.1:g.136130824_136130890del	GRCh37
NC_000009.10:g.135120645_135120711del	NCBI36
NG_006669.1:g.22165_22231del
NG_006669.2:g.24713_24779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1257_1323del
ENST00000647353.1:n.54-4351_54-4285del
ENST00000679909.1:c.28+19659_28+19725del	ENSP00000506089.1:n.28+19659_28+19725del
ENST00000453660.3:n.1239_1305del
ENST00000611156.4:c.*163_*229del	ENSP00000483265.1:n.*163_*229del
NM_020469.2:c.*163_*229del	NP_065202.2:n.*163_*229del
NM_020469.3:c.*163_*229del	NP_065202.2:n.*163_*229del