Canonical Allele Identifier: CA1129714913

Gene: ABO

Linked Data

• gnomAD v3: 9-133255494-GTGTCTCTGT-G
• gnomAD v4: 9-133255494-GTGTCTCTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255495_133255503del , CM000671.2:g.133255495_133255503del	GRCh38
NC_000009.11:g.136130882_136130890del , CM000671.1:g.136130882_136130890del	GRCh37
NC_000009.10:g.135120703_135120711del	NCBI36
NG_006669.1:g.22165_22173del
NG_006669.2:g.24713_24721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1257_1265del
ENST00000647353.1:n.54-4351_54-4343del
ENST00000679909.1:c.28+19659_28+19667del	ENSP00000506089.1:n.28+19659_28+19667del
ENST00000453660.3:n.1239_1247del
ENST00000611156.4:c.*163_*171del	ENSP00000483265.1:n.*163_*171del
NM_020469.2:c.*163_*171del	NP_065202.2:n.*163_*171del
NM_020469.3:c.*163_*171del	NP_065202.2:n.*163_*171del