Canonical Allele Identifier: CA467780941

Gene: ABO

Linked Data

• dbSNP Id: rs1247950625
• gnomAD v4: 9-133255464-GTCTT-G
• MyVariant Identifiers: chr9:g.136130852_136130855del (hg19) ; chr9:g.133255465_133255468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255468_133255471del , CM000671.2:g.133255468_133255471del	GRCh38
NC_000009.11:g.136130855_136130858del , CM000671.1:g.136130855_136130858del	GRCh37
NC_000009.10:g.135120676_135120679del	NCBI36
NG_006669.1:g.22200_22203del
NG_006669.2:g.24748_24751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1292_1295del
ENST00000647353.1:n.54-4316_54-4313del
ENST00000679909.1:c.28+19694_28+19697del	ENSP00000506089.1:n.28+19694_28+19697del
ENST00000453660.3:n.1274_1277del
ENST00000611156.4:c.*198_*201del	ENSP00000483265.1:n.*198_*201del
NM_020469.2:c.*198_*201del	NP_065202.2:n.*198_*201del
NM_020469.3:c.*198_*201del	NP_065202.2:n.*198_*201del