Canonical Allele Identifier: CA5305891

Gene: ABO

Linked Data

• dbSNP Id: rs782277512
• ExAC: 9:136132808 AAC / A
• gnomAD v2: 9-136132808-AAC-A
• gnomAD v3: 9-133257421-AAC-A
• gnomAD v4: 9-133257421-AAC-A
• MyVariant Identifiers: chr9:g.136132809_136132810del (hg19) ; chr9:g.133257422_133257423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257425_133257426del , CM000671.2:g.133257425_133257426del	GRCh38
NC_000009.11:g.136132812_136132813del , CM000671.1:g.136132812_136132813del	GRCh37
NC_000009.10:g.135122633_135122634del	NCBI36
NG_006669.1:g.20245_20246del
NG_006669.2:g.22793_22794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.389_390del
ENST00000647353.1:n.54-6271_54-6270del
ENST00000651471.1:n.329+619_329+620del
ENST00000679909.1:c.28+17739_28+17740del	ENSP00000506089.1:n.28+17739_28+17740del
ENST00000453660.3:n.371_372del
ENST00000538324.2:c.357_358del	ENSP00000483018.1:p.Phe120CysfsTer?
ENST00000611156.4:c.357_358del	ENSP00000483265.1:p.Phe120CysfsTer?
NM_020469.2:c.360_361del	NP_065202.2:p.Phe121CysfsTer?
NM_020469.3:c.360_361del	NP_065202.2:p.Phe121CysfsTer?