Canonical Allele Identifier: CA2692330358

Gene: ABO

Linked Data

• gnomAD v4: 9-133256158-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256159_133256160dup , CM000671.2:g.133256159_133256160dup	GRCh38
NC_000009.11:g.136131546_136131547dup , CM000671.1:g.136131546_136131547dup	GRCh37
NC_000009.10:g.135121367_135121368dup	NCBI36
NG_006669.1:g.21508_21509dup
NG_006669.2:g.24056_24057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.600_601dup
ENST00000647353.1:n.54-5008_54-5007dup
ENST00000651471.1:n.526_527dup
ENST00000679909.1:c.28+19002_28+19003dup	ENSP00000506089.1:n.28+19002_28+19003dup
ENST00000453660.3:n.582_583dup
ENST00000538324.2:c.568_569dup	ENSP00000483018.1:p.Met190IlefsTer2
ENST00000611156.4:c.568_569dup	ENSP00000483265.1:p.Met190IlefsTer2
NM_020469.2:c.571_572dup	NP_065202.2:p.Met191IlefsTer2
NM_020469.3:c.571_572dup	NP_065202.2:p.Met191IlefsTer2