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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:
CA775165323
Gene: TP53
HGNC
NCBI
Linked Data
dbSNP Id:
rs1555523600
MyVariant Identifiers:
chr17:g.7571487_7571488insGCCATG (hg19)
chr17:g.7668169_7668170insGCCATG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668172_7668173insATGGCC , CM000679.2:g.7668172_7668173insATGGCC
GRCh38
NC_000017.10:g.7571490_7571491insATGGCC , CM000679.1:g.7571490_7571491insATGGCC
GRCh37
NC_000017.9:g.7512215_7512216insATGGCC
NCBI36
NG_017013.2:g.24381_24382insCATGGC , LRG_321:g.24381_24382insCATGGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359597.8:c.994-1926_994-1925insCATGGC
ENSP00000352610.4:n.994-1926_994-1925insCATGGC
ENST00000413465.6:c.782+6011_782+6012insCATGGC
ENSP00000410739.2:n.782+6011_782+6012insCATGGC
ENST00000635293.1:c.984-745_984-744insCATGGC
ENSP00000488924.1:n.984-745_984-744insCATGGC
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