Canonical Allele Identifier: CA2740095019
Gene: POMK HGNC NCBI

Linked Data

ClinVar Variation Id: 2945834
ClinVar RCV Id: RCV003803928

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122671del , CM000670.2:g.43122671del GRCh38
NC_000008.10:g.42977814del , CM000670.1:g.42977814del GRCh37
NC_000008.9:g.43096971del NCBI36
NG_033235.1:g.34166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.847del MANE Select ENSP00000331258.5:p.Trp283GlyfsTer?
ENST00000614426.2:c.*643del ENSP00000478821.2:n.*643del
ENST00000674646.1:c.565del ENSP00000501703.1:p.Trp189GlyfsTer?
ENST00000674676.1:c.565del ENSP00000502544.1:p.Trp189GlyfsTer?
ENST00000674782.1:c.*767del ENSP00000501683.1:n.*767del
ENST00000674937.1:c.805del ENSP00000501823.1:p.Trp269GlyfsTer?
ENST00000675322.1:c.565del ENSP00000502235.1:p.Trp189GlyfsTer?
ENST00000675675.1:c.565del ENSP00000501793.1:p.Trp189GlyfsTer?
ENST00000676178.1:c.*632del ENSP00000502007.1:n.*632del
ENST00000676193.1:c.847del ENSP00000502774.1:p.Trp283GlyfsTer?
ENST00000331373.9:c.847del ENSP00000331258.5:p.Trp283GlyfsTer?
ENST00000614426.1:c.847del ENSP00000478821.1:p.Trp283GlyfsTer?
NM_001277971.1:c.847del NP_001264900.1:p.Trp283GlyfsTer?
NM_032237.4:c.847del NP_115613.1:p.Trp283GlyfsTer?
XM_011544668.1:c.847del XP_011542970.1:p.Trp283GlyfsTer?
XM_011544669.1:c.847del XP_011542971.1:p.Trp283GlyfsTer?
NM_032237.5:c.847del MANE Select NP_115613.1:p.Trp283GlyfsTer?
NM_001277971.2:c.847del NP_001264900.1:p.Trp283GlyfsTer?