Canonical Allele Identifier: CA2692330753

Gene: ABO

Linked Data

• gnomAD v4: 9-133257993-C-CAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257993_133257994insAGG , CM000671.2:g.133257993_133257994insAGG	GRCh38
NC_000009.11:g.136133383_136133384insAGG , CM000671.1:g.136133383_136133384insAGG	GRCh37
NC_000009.10:g.135123204_135123205insAGG	NCBI36
NG_006669.1:g.19670_19671insCCT
NG_006669.2:g.22221_22222insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.269+103_269+104insCCT
ENST00000647353.1:n.54-6842_54-6841insCCT
ENST00000651471.1:n.329+48_329+49insCCT
ENST00000679909.1:c.28+17168_28+17169insCCT	ENSP00000506089.1:n.28+17168_28+17169insCCT
ENST00000453660.3:n.251+103_251+104insCCT
ENST00000538324.2:c.239+103_239+104insCCT	ENSP00000483018.1:n.239+103_239+104insCCT
ENST00000611156.4:c.239+103_239+104insCCT	ENSP00000483265.1:n.239+103_239+104insCCT
NM_020469.2:c.239+103_239+104insCCT	NP_065202.2:n.239+103_239+104insCCT
NM_020469.3:c.239+103_239+104insCCT	NP_065202.2:n.239+103_239+104insCCT