ClinGen Allele Registry
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Canonical Allele Identifier:
CA2954282334
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257534dup , CM000671.2:g.133257534dup
GRCh38
NC_000009.11:g.136132921dup , CM000671.1:g.136132921dup
GRCh37
NC_000009.10:g.135122742dup
NCBI36
NG_006669.1:g.20133dup
NG_006669.2:g.22681dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.278dup
ENST00000647353.1:n.54-6382dup
ENST00000651471.1:n.329+508dup
ENST00000679909.1:c.28+17628dup
ENSP00000506089.1:n.28+17628dup
ENST00000453660.3:n.260dup
ENST00000538324.2:c.248dup
ENSP00000483018.1:p.Asp83GlufsTer?
ENST00000611156.4:c.248dup
ENSP00000483265.1:p.Asp83GlufsTer?
NM_020469.2:c.248dup
NP_065202.2:p.Asp83GlufsTer?
NM_020469.3:c.248dup
NP_065202.2:p.Asp83GlufsTer?
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