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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2014288085
Gene: TPI1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1944482153
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6867526del , CM000674.2:g.6867526del
GRCh38
NC_000012.11:g.6976690del , CM000674.1:g.6976690del
GRCh37
NC_000012.10:g.6846951del
NCBI36
NG_011948.1:g.5107del
Transcript Alleles
HGVS
Amino-acid change
ENST00000229270.8:c.71del
ENSP00000229270.4:p.Leu24ArgfsTer29
ENST00000613953.4:c.71del
ENSP00000484435.1:p.Leu24ArgfsTer29
NM_001159287.1:c.71del
NP_001152759.1:p.Leu24ArgfsTer29
XR_002957378.1:n.693del
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