Canonical Allele Identifier: CA2603547820

Gene: ABO

Linked Data

• gnomAD v3: 9-133255382-C-CTCTG
• gnomAD v4: 9-133255382-C-CTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255383_133255384insCTGT , CM000671.2:g.133255383_133255384insCTGT	GRCh38
NC_000009.11:g.136130770_136130771insCTGT , CM000671.1:g.136130770_136130771insCTGT	GRCh37
NC_000009.10:g.135120591_135120592insCTGT	NCBI36
NG_006669.1:g.22285_22286insCAGA
NG_006669.2:g.24833_24834insCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1377_1378insCAGA
ENST00000647353.1:n.54-4231_54-4230insCAGA
ENST00000679909.1:c.28+19779_28+19780insCAGA	ENSP00000506089.1:n.28+19779_28+19780insCAGA
ENST00000453660.3:n.1359_1360insCAGA
ENST00000611156.4:c.*283_*284insCAGA	ENSP00000483265.1:n.*283_*284insCAGA
NM_020469.2:c.*283_*284insCAGA	NP_065202.2:n.*283_*284insCAGA
NM_020469.3:c.*283_*284insCAGA	NP_065202.2:n.*283_*284insCAGA