Canonical Allele Identifier: CA2692330349

Gene: ABO

Linked Data

• gnomAD v4: 9-133255948-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255949_133255951del , CM000671.2:g.133255949_133255951del	GRCh38
NC_000009.11:g.136131336_136131338del , CM000671.1:g.136131336_136131338del	GRCh37
NC_000009.10:g.135121157_135121159del	NCBI36
NG_006669.1:g.21717_21719del
NG_006669.2:g.24265_24267del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.809_811del
ENST00000647353.1:n.54-4799_54-4797del
ENST00000679909.1:c.28+19211_28+19213del	ENSP00000506089.1:n.28+19211_28+19213del
ENST00000453660.3:n.791_793del
ENST00000538324.2:c.777_779del	ENSP00000483018.1:p.Glu259_Gly260delinsAs...
ENST00000611156.4:c.777_779del	ENSP00000483265.1:p.Glu259_Gly260delinsAs...
NM_020469.2:c.780_782del	NP_065202.2:p.Glu260_Gly261delinsAsp
NM_020469.3:c.780_782del	NP_065202.2:p.Glu260_Gly261delinsAsp