ClinGen Allele Registry
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Canonical Allele Identifier:
CA1129715366
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1834575033
gnomAD v3:
9-133256097-CG-C
gnomAD v4:
9-133256097-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256098del , CM000671.2:g.133256098del
GRCh38
NC_000009.11:g.136131485del , CM000671.1:g.136131485del
GRCh37
NC_000009.10:g.135121306del
NCBI36
NG_006669.1:g.21570del
NG_006669.2:g.24118del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.662del
ENST00000647353.1:n.54-4946del
ENST00000679909.1:c.28+19064del
ENSP00000506089.1:n.28+19064del
ENST00000453660.3:n.644del
ENST00000538324.2:c.630del
ENSP00000483018.1:p.Asp210GlufsTer15
ENST00000611156.4:c.630del
ENSP00000483265.1:p.Asp210GlufsTer15
NM_020469.2:c.633del
NP_065202.2:p.Asp211GlufsTer15
NM_020469.3:c.633del
NP_065202.2:p.Asp211GlufsTer15
Search 100 bp 5'
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