Allele Registry

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.

Canonical Allele Identifier: CA1065152319

Gene: PPM1K-DT HGNC NCBI

Linked Data

dbSNP Id: rs1732984667

gnomAD v3: 4-88322721-AC-A

gnomAD v4: 4-88322721-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88322722del , CM000666.2:g.88322722del	GRCh38
NC_000004.11:g.89243874del , CM000666.1:g.89243874del	GRCh37
NC_000004.10:g.89462898del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_244670.3:n.641+3297del
XR_938963.1:n.641+3297del
NR_134236.1:n.425+3297del
NR_134237.1:n.349+3297del
NR_134238.1:n.330+5915del

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