Canonical Allele Identifier: CA860752500

Gene: ABO

Linked Data

• dbSNP Id: rs1484483903
• MyVariant Identifiers: chr9:g.136131391del (hg19) ; chr9:g.133256004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256005del , CM000671.2:g.133256005del	GRCh38
NC_000009.11:g.136131392del , CM000671.1:g.136131392del	GRCh37
NC_000009.10:g.135121213del	NCBI36
NG_006669.1:g.21664del
NG_006669.2:g.24212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.756del
ENST00000647353.1:n.54-4852del
ENST00000679909.1:c.28+19158del	ENSP00000506089.1:n.28+19158del
ENST00000453660.3:n.738del
ENST00000538324.2:c.724del	ENSP00000483018.1:p.Ala242ProfsTer?
ENST00000611156.4:c.724del	ENSP00000483265.1:p.Ala242ProfsTer?
NM_020469.2:c.727del	NP_065202.2:p.Ala243ProfsTer?
NM_020469.3:c.727del	NP_065202.2:p.Ala243ProfsTer?