×
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:
CA2573052869
Gene: MPLKIP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1332725
ClinVar RCV Id:
RCV001806299
dbSNP Id:
rs2150561563
gnomAD v4:
7-40134338-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.40134340del , CM000669.2:g.40134340del
GRCh38
NC_000007.13:g.40173939del , CM000669.1:g.40173939del
GRCh37
NC_000007.12:g.40140464del
NCBI36
NG_016989.2:g.5314del
NG_023422.1:g.4365del
NG_023422.2:g.4365del
Transcript Alleles
HGVS
Amino-acid change
ENST00000306984.8:c.229del
MANE Select
ENSP00000304553.5:p.Arg77GlyfsTer?
ENST00000306984.6:c.229del
ENSP00000304553.5:p.Arg77GlyfsTer?
NM_138701.3:c.229del
NP_619646.1:p.Arg77GlyfsTer?
NM_138701.4:c.229del
MANE Select
NP_619646.1:p.Arg77GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'