Canonical Allele Identifier: CA860751010

Gene: ABO

Linked Data

• dbSNP Id: rs782193954
• gnomAD v3: 9-133255382-CTG-C
• gnomAD v4: 9-133255382-CTG-C
• MyVariant Identifiers: chr9:g.136130770_136130771del (hg19) ; chr9:g.133255383_133255384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255386_133255387del , CM000671.2:g.133255386_133255387del	GRCh38
NC_000009.11:g.136130773_136130774del , CM000671.1:g.136130773_136130774del	GRCh37
NC_000009.10:g.135120594_135120595del	NCBI36
NG_006669.1:g.22284_22285del
NG_006669.2:g.24832_24833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1376_1377del
ENST00000647353.1:n.54-4232_54-4231del
ENST00000679909.1:c.28+19778_28+19779del	ENSP00000506089.1:n.28+19778_28+19779del
ENST00000453660.3:n.1358_1359del
ENST00000611156.4:c.*282_*283del	ENSP00000483265.1:n.*282_*283del
NM_020469.2:c.*282_*283del	NP_065202.2:n.*282_*283del
NM_020469.3:c.*282_*283del	NP_065202.2:n.*282_*283del