Canonical Allele Identifier: CA2579158817

Gene: POMK

Linked Data

• ClinVar Variation Id: 2683017
• ClinVar RCV Id: RCV003481884 ; RCV003779207

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122627del , CM000670.2:g.43122627del	GRCh38
NC_000008.10:g.42977770del , CM000670.1:g.42977770del	GRCh37
NC_000008.9:g.43096927del	NCBI36
NG_033235.1:g.34122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.803del MANE Select	ENSP00000331258.5:p.Phe268SerfsTer?
ENST00000614426.2:c.*599del	ENSP00000478821.2:n.*599del
ENST00000674646.1:c.521del	ENSP00000501703.1:p.Phe174SerfsTer?
ENST00000674676.1:c.521del	ENSP00000502544.1:p.Phe174SerfsTer?
ENST00000674782.1:c.*723del	ENSP00000501683.1:n.*723del
ENST00000674937.1:c.761del	ENSP00000501823.1:p.Phe254SerfsTer?
ENST00000675322.1:c.521del	ENSP00000502235.1:p.Phe174SerfsTer?
ENST00000675675.1:c.521del	ENSP00000501793.1:p.Phe174SerfsTer?
ENST00000676178.1:c.*588del	ENSP00000502007.1:n.*588del
ENST00000676193.1:c.803del	ENSP00000502774.1:p.Phe268SerfsTer?
ENST00000331373.9:c.803del	ENSP00000331258.5:p.Phe268SerfsTer?
ENST00000614426.1:c.803del	ENSP00000478821.1:p.Phe268SerfsTer?
NM_001277971.1:c.803del	NP_001264900.1:p.Phe268SerfsTer?
NM_032237.4:c.803del	NP_115613.1:p.Phe268SerfsTer?
XM_011544668.1:c.803del	XP_011542970.1:p.Phe268SerfsTer?
XM_011544669.1:c.803del	XP_011542971.1:p.Phe268SerfsTer?
NM_032237.5:c.803del MANE Select	NP_115613.1:p.Phe268SerfsTer?
NM_001277971.2:c.803del	NP_001264900.1:p.Phe268SerfsTer?