Canonical Allele Identifier: CA918570291

Gene: ABO

Linked Data

• dbSNP Id: rs1588636572
• gnomAD v3: 9-133255450-T-TGAGG
• gnomAD v4: 9-133255450-T-TGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255450_133255451insGAGG , CM000671.2:g.133255450_133255451insGAGG	GRCh38
NC_000009.11:g.136130837_136130838insGAGG , CM000671.1:g.136130837_136130838insGAGG	GRCh37
NC_000009.10:g.135120658_135120659insGAGG	NCBI36
NG_006669.1:g.22217_22218insCCTC
NG_006669.2:g.24765_24766insCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1309_1310insCCTC
ENST00000647353.1:n.54-4299_54-4298insCCTC
ENST00000679909.1:c.28+19711_28+19712insCCTC	ENSP00000506089.1:n.28+19711_28+19712insCCTC
ENST00000453660.3:n.1291_1292insCCTC
ENST00000611156.4:c.*215_*216insCCTC	ENSP00000483265.1:n.*215_*216insCCTC
NM_020469.2:c.*215_*216insCCTC	NP_065202.2:n.*215_*216insCCTC
NM_020469.3:c.*215_*216insCCTC	NP_065202.2:n.*215_*216insCCTC