×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA624725067
Gene: TP53
HGNC
NCBI
Linked Data
dbSNP Id:
rs1414538378
gnomAD v2:
17-7571546-CT-C
gnomAD v3:
17-7668228-CT-C
gnomAD v4:
17-7668228-CT-C
MyVariant Identifiers:
chr17:g.7571547del (hg19)
chr17:g.7668229del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668229del , CM000679.2:g.7668229del
GRCh38
NC_000017.10:g.7571547del , CM000679.1:g.7571547del
GRCh37
NC_000017.9:g.7512272del
NCBI36
NG_017013.2:g.24322del , LRG_321:g.24322del
Transcript Alleles
HGVS
Amino-acid change
ENST00000359597.8:c.994-1985del
ENSP00000352610.4:n.994-1985del
ENST00000413465.6:c.782+5952del
ENSP00000410739.2:n.782+5952del
ENST00000635293.1:c.984-804del
ENSP00000488924.1:n.984-804del
Search 100 bp 5'
Search 100 bp 3'