Canonical Allele Identifier: CA860751112

Gene: ABO

Linked Data

• dbSNP Id: rs1168059070
• gnomAD v3: 9-133255418-GTC-G
• gnomAD v4: 9-133255418-GTC-G
• MyVariant Identifiers: chr9:g.136130806_136130807del (hg19) ; chr9:g.133255419_133255420del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255422_133255423del , CM000671.2:g.133255422_133255423del	GRCh38
NC_000009.11:g.136130809_136130810del , CM000671.1:g.136130809_136130810del	GRCh37
NC_000009.10:g.135120630_135120631del	NCBI36
NG_006669.1:g.22248_22249del
NG_006669.2:g.24796_24797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1340_1341del
ENST00000647353.1:n.54-4268_54-4267del
ENST00000679909.1:c.28+19742_28+19743del	ENSP00000506089.1:n.28+19742_28+19743del
ENST00000453660.3:n.1322_1323del
ENST00000611156.4:c.*246_*247del	ENSP00000483265.1:n.*246_*247del
NM_020469.2:c.*246_*247del	NP_065202.2:n.*246_*247del
NM_020469.3:c.*246_*247del	NP_065202.2:n.*246_*247del