×
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:
CA799647995
Gene: PPM1K-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1256817695
MyVariant Identifiers:
chr4:g.89243687_89243688insC (hg19)
chr4:g.88322535_88322536insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.88322536dup , CM000666.2:g.88322536dup
GRCh38
NC_000004.11:g.89243688dup , CM000666.1:g.89243688dup
GRCh37
NC_000004.10:g.89462712dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_244670.3:n.641+3111dup
XR_938963.1:n.641+3111dup
NR_134236.1:n.425+3111dup
NR_134237.1:n.349+3111dup
NR_134238.1:n.330+5729dup
Search 100 bp 5'
Search 100 bp 3'