Canonical Allele Identifier: CA200764898

Gene: ABO

Linked Data

• dbSNP Id: rs782601778
• COSMIC: COSN20106701
• MyVariant Identifiers: chr9:g.136130802_136130803insGT (hg19) ; chr9:g.133255415_133255416insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255418_133255419dup , CM000671.2:g.133255418_133255419dup	GRCh38
NC_000009.11:g.136130805_136130806dup , CM000671.1:g.136130805_136130806dup	GRCh37
NC_000009.10:g.135120626_135120627dup	NCBI36
NG_006669.1:g.22251_22252dup
NG_006669.2:g.24799_24800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1343_1344dup
ENST00000647353.1:n.54-4265_54-4264dup
ENST00000679909.1:c.28+19745_28+19746dup	ENSP00000506089.1:n.28+19745_28+19746dup
ENST00000453660.3:n.1325_1326dup
ENST00000611156.4:c.*249_*250dup	ENSP00000483265.1:n.*249_*250dup
NM_020469.2:c.*249_*250dup	NP_065202.2:n.*249_*250dup
NM_020469.3:c.*249_*250dup	NP_065202.2:n.*249_*250dup