Canonical Allele Identifier: CA5305727

Gene: ABO

Linked Data

• dbSNP Id: rs782782485
• ExAC: 9:136131313 A / AC
• gnomAD v2: 9-136131313-A-AC
• gnomAD v3: 9-133255926-A-AC
• gnomAD v4: 9-133255926-A-AC
• COSMIC: COSM5835656
• MyVariant Identifiers: chr9:g.136131313_136131314insC (hg19) ; chr9:g.133255926_133255927insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255933dup , CM000671.2:g.133255933dup	GRCh38
NC_000009.11:g.136131320dup , CM000671.1:g.136131320dup	GRCh37
NC_000009.10:g.135121141dup	NCBI36
NG_006669.1:g.21741dup
NG_006669.2:g.24289dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.833dup
ENST00000647353.1:n.54-4775dup
ENST00000679909.1:c.28+19235dup	ENSP00000506089.1:n.28+19235dup
ENST00000453660.3:n.815dup
ENST00000538324.2:c.801dup	ENSP00000483018.1:p.Phe268ValfsTer?
ENST00000611156.4:c.801dup	ENSP00000483265.1:p.Phe268ValfsTer?
NM_020469.2:c.804dup	NP_065202.2:p.Phe269ValfsTer?
NM_020469.3:c.804dup	NP_065202.2:p.Phe269ValfsTer?