ClinGen Allele Registry
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Canonical Allele Identifier:
CA2839956692
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256172dup , CM000671.2:g.133256172dup
GRCh38
NC_000009.11:g.136131559dup , CM000671.1:g.136131559dup
GRCh37
NC_000009.10:g.135121380dup
NCBI36
NG_006669.1:g.21496dup
NG_006669.2:g.24044dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.588dup
ENST00000647353.1:n.54-5020dup
ENST00000651471.1:n.514dup
ENST00000679909.1:c.28+18990dup
ENSP00000506089.1:n.28+18990dup
ENST00000453660.3:n.570dup
ENST00000538324.2:c.556dup
ENSP00000483018.1:p.Arg186ProfsTer8
ENST00000611156.4:c.556dup
ENSP00000483265.1:p.Arg186ProfsTer8
NM_020469.2:c.559dup
NP_065202.2:p.Arg187ProfsTer8
NM_020469.3:c.559dup
NP_065202.2:p.Arg187ProfsTer8
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