Canonical Allele Identifier: CA2692330303

Gene: ABO

Linked Data

• gnomAD v4: 9-133255286-GTGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255287_133255291del , CM000671.2:g.133255287_133255291del	GRCh38
NC_000009.11:g.136130674_136130678del , CM000671.1:g.136130674_136130678del	GRCh37
NC_000009.10:g.135120495_135120499del	NCBI36
NG_006669.1:g.22377_22381del
NG_006669.2:g.24925_24929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1469_1473del
ENST00000647353.1:n.54-4139_54-4135del
ENST00000679909.1:c.28+19871_28+19875del	ENSP00000506089.1:n.28+19871_28+19875del
ENST00000453660.3:n.1451_1455del
ENST00000611156.4:c.*375_*379del	ENSP00000483265.1:n.*375_*379del
NM_020469.2:c.*375_*379del	NP_065202.2:n.*375_*379del
NM_020469.3:c.*375_*379del	NP_065202.2:n.*375_*379del