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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:
CA287485086
Gene: TP53
HGNC
NCBI
Linked Data
dbSNP Id:
rs199986063
MyVariant Identifiers:
chr17:g.7571554_7571555insC (hg19)
chr17:g.7668236_7668237insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668236_7668237insC , CM000679.2:g.7668236_7668237insC
GRCh38
NC_000017.10:g.7571554_7571555insC , CM000679.1:g.7571554_7571555insC
GRCh37
NC_000017.9:g.7512279_7512280insC
NCBI36
NG_017013.2:g.24314_24315insG , LRG_321:g.24314_24315insG
Transcript Alleles
HGVS
Amino-acid change
ENST00000359597.8:c.994-1993_994-1992insG
ENSP00000352610.4:n.994-1993_994-1992insG
ENST00000413465.6:c.782+5944_782+5945insG
ENSP00000410739.2:n.782+5944_782+5945insG
ENST00000635293.1:c.984-812_984-811insG
ENSP00000488924.1:n.984-812_984-811insG
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