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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:
CA287485043
Gene: TP53
HGNC
NCBI
Linked Data
dbSNP Id:
rs1049824407
gnomAD v2:
17-7571490-C-CGTGGCT
gnomAD v3:
17-7668172-C-CGTGGCT
gnomAD v4:
17-7668172-C-CGTGGCT
MyVariant Identifiers:
chr17:g.7571490_7571491insGTGGCT (hg19)
chr17:g.7668172_7668173insGTGGCT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668177_7668178insTGTGGC , CM000679.2:g.7668177_7668178insTGTGGC
GRCh38
NC_000017.10:g.7571495_7571496insTGTGGC , CM000679.1:g.7571495_7571496insTGTGGC
GRCh37
NC_000017.9:g.7512220_7512221insTGTGGC
NCBI36
NG_017013.2:g.24378_24379insAGCCAC , LRG_321:g.24378_24379insAGCCAC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359597.8:c.994-1929_994-1928insAGCCAC
ENSP00000352610.4:n.994-1929_994-1928insAGCCAC
ENST00000413465.6:c.782+6008_782+6009insAGCCAC
ENSP00000410739.2:n.782+6008_782+6009insAGCCAC
ENST00000635293.1:c.984-748_984-747insAGCCAC
ENSP00000488924.1:n.984-748_984-747insAGCCAC
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