Canonical Allele Identifier: CA5305802

Gene: ABO

Linked Data

• dbSNP Id: rs782617991
• ExAC: 9:136131545 CA / C
• gnomAD v2: 9-136131545-CA-C
• MyVariant Identifiers: chr9:g.136131546del (hg19) ; chr9:g.133256159del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256159del , CM000671.2:g.133256159del	GRCh38
NC_000009.11:g.136131546del , CM000671.1:g.136131546del	GRCh37
NC_000009.10:g.135121367del	NCBI36
NG_006669.1:g.21509del
NG_006669.2:g.24057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.601del
ENST00000647353.1:n.54-5007del
ENST00000651471.1:n.527del
ENST00000679909.1:c.28+19003del	ENSP00000506089.1:n.28+19003del
ENST00000453660.3:n.583del
ENST00000538324.2:c.569del	ENSP00000483018.1:p.Met190ArgfsTer?
ENST00000611156.4:c.569del	ENSP00000483265.1:p.Met190ArgfsTer?
NM_020469.2:c.572del	NP_065202.2:p.Met191ArgfsTer?
NM_020469.3:c.572del	NP_065202.2:p.Met191ArgfsTer?