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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
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Canonical Allele Identifier:
CA2245938198
Gene: TP53
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668232_7668235delinsCTTG , CM000679.2:g.7668232_7668235delinsCTTG
GRCh38
NC_000017.10:g.7571550_7571553delinsCTTG , CM000679.1:g.7571550_7571553delinsCTTG
GRCh37
NC_000017.9:g.7512275_7512278delinsCTTG
NCBI36
NG_017013.2:g.24316_24319delinsCAAG , LRG_321:g.24316_24319delinsCAAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000359597.8:c.994-1991_994-1988delinsCAAG
ENSP00000352610.4:n.994-1991_994-1988delinsCAAG
ENST00000413465.6:c.782+5946_782+5949delinsCAAG
ENSP00000410739.2:n.782+5946_782+5949delinsCAAG
ENST00000635293.1:c.984-810_984-807delinsCAAG
ENSP00000488924.1:n.984-810_984-807delinsCAAG
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