×
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:
CA1474700750
Gene: PPM1K-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.88322721_88322722delinsAC , CM000666.2:g.88322721_88322722delinsAC
GRCh38
NC_000004.11:g.89243873_89243874delinsAC , CM000666.1:g.89243873_89243874delinsAC
GRCh37
NC_000004.10:g.89462897_89462898delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_244670.3:n.641+3296_641+3297delinsAC
XR_938963.1:n.641+3296_641+3297delinsAC
NR_134236.1:n.425+3296_425+3297delinsAC
NR_134237.1:n.349+3296_349+3297delinsAC
NR_134238.1:n.330+5914_330+5915delinsAC
Search 100 bp 5'
Search 100 bp 3'