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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:
CA775165325
Gene: TP53
HGNC
NCBI
Linked Data
dbSNP Id:
rs1334877078
gnomAD v3:
17-7668170-G-GCCGTGA
gnomAD v4:
17-7668170-G-GCCGTGA
MyVariant Identifiers:
chr17:g.7571488_7571489insCCGTGA (hg19)
chr17:g.7668170_7668171insCCGTGA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668175_7668176insACCGTG , CM000679.2:g.7668175_7668176insACCGTG
GRCh38
NC_000017.10:g.7571493_7571494insACCGTG , CM000679.1:g.7571493_7571494insACCGTG
GRCh37
NC_000017.9:g.7512218_7512219insACCGTG
NCBI36
NG_017013.2:g.24380_24381insTCACGG , LRG_321:g.24380_24381insTCACGG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359597.8:c.994-1927_994-1926insTCACGG
ENSP00000352610.4:n.994-1927_994-1926insTCACGG
ENST00000413465.6:c.782+6010_782+6011insTCACGG
ENSP00000410739.2:n.782+6010_782+6011insTCACGG
ENST00000635293.1:c.984-746_984-745insTCACGG
ENSP00000488924.1:n.984-746_984-745insTCACGG
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