×
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:
CA2743490944
Gene: CMPK1
HGNC
NCBI
LINC01389
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.47388847del , CM000663.2:g.47388847del
GRCh38
NC_000001.10:g.47854519del , CM000663.1:g.47854519del
GRCh37
NC_000001.9:g.47627106del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000699074.1:c.550-5434del
(CMPK1)
ENSP00000514113.1:n.550-5434del
NR_126355.1:n.405-2491del
(LINC01389)
Search 100 bp 5'
Search 100 bp 3'