Canonical Allele Identifier: CA5305920

Gene: ABO

Linked Data

• dbSNP Id: rs8176719
• ExAC: 9:136132908 T / TC
• gnomAD v2: 9-136132908-T-TC
• gnomAD v3: 9-133257521-T-TC
• gnomAD v4: 9-133257521-T-TC
• MyVariant Identifiers: chr9:g.136132908_136132909insC (hg19) ; chr9:g.133257521_133257522insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257521_133257522insC , CM000671.2:g.133257521_133257522insC	GRCh38
NC_000009.11:g.136132908_136132909insC , CM000671.1:g.136132908_136132909insC	GRCh37
NC_000009.10:g.135122729_135122730insC	NCBI36
NG_006669.1:g.20145_20146insG
NG_006669.2:g.22693_22694insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.290_291insG
ENST00000647353.1:n.54-6370_54-6369insG
ENST00000651471.1:n.329+520_329+521insG
ENST00000679909.1:c.28+17640_28+17641insG	ENSP00000506089.1:n.28+17640_28+17641insG
ENST00000453660.3:n.272_273insG
ENST00000538324.2:c.259-1_259insG	ENSP00000483018.1:n.259-1_259insG
ENST00000611156.4:c.259-1_259insG	ENSP00000483265.1:n.259-1_259insG
NM_020469.2:c.260_261insG	NP_065202.2:p.Thr88AspfsTer?
NM_020469.3:c.260_261insG	NP_065202.2:p.Thr88AspfsTer?