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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:
CA287485036
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1170064
ClinVar RCV Id:
RCV001522058
RCV001685411
RCV002290711
RCV002290710
dbSNP Id:
rs17880560
gnomAD v2:
17-7571487-A-AGCCGTG
gnomAD v3:
17-7668169-A-AGCCGTG
gnomAD v4:
17-7668169-A-AGCCGTG
MyVariant Identifiers:
chr17:g.7571487_7571488insGCCGTG (hg19)
chr17:g.7668169_7668170insGCCGTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668174_7668179dup , CM000679.2:g.7668174_7668179dup
GRCh38
NC_000017.10:g.7571492_7571497dup , CM000679.1:g.7571492_7571497dup
GRCh37
NC_000017.9:g.7512217_7512222dup
NCBI36
NG_017013.2:g.24376_24381dup , LRG_321:g.24376_24381dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359597.8:c.994-1931_994-1926dup
ENSP00000352610.4:n.994-1931_994-1926dup
ENST00000413465.6:c.782+6006_782+6011dup
ENSP00000410739.2:n.782+6006_782+6011dup
ENST00000635293.1:c.984-750_984-745dup
ENSP00000488924.1:n.984-750_984-745dup
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