Canonical Allele Identifier: CA2740095018

Gene: POMK

Linked Data

• ClinVar Variation Id: 2932937
• ClinVar RCV Id: RCV003798103

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122548dup , CM000670.2:g.43122548dup	GRCh38
NC_000008.10:g.42977691dup , CM000670.1:g.42977691dup	GRCh37
NC_000008.9:g.43096848dup	NCBI36
NG_033235.1:g.34043dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.724dup MANE Select	ENSP00000331258.5:p.Val242GlyfsTer30
ENST00000614426.2:c.*520dup	ENSP00000478821.2:n.*520dup
ENST00000674646.1:c.442dup	ENSP00000501703.1:p.Val148GlyfsTer30
ENST00000674676.1:c.442dup	ENSP00000502544.1:p.Val148GlyfsTer30
ENST00000674782.1:c.*644dup	ENSP00000501683.1:n.*644dup
ENST00000674937.1:c.682dup	ENSP00000501823.1:p.Val228GlyfsTer30
ENST00000675322.1:c.442dup	ENSP00000502235.1:p.Val148GlyfsTer30
ENST00000675675.1:c.442dup	ENSP00000501793.1:p.Val148GlyfsTer30
ENST00000676178.1:c.*509dup	ENSP00000502007.1:n.*509dup
ENST00000676193.1:c.724dup	ENSP00000502774.1:p.Val242GlyfsTer30
ENST00000331373.9:c.724dup	ENSP00000331258.5:p.Val242GlyfsTer30
ENST00000614426.1:c.724dup	ENSP00000478821.1:p.Val242GlyfsTer30
NM_001277971.1:c.724dup	NP_001264900.1:p.Val242GlyfsTer30
NM_032237.4:c.724dup	NP_115613.1:p.Val242GlyfsTer30
XM_011544668.1:c.724dup	XP_011542970.1:p.Val242GlyfsTer30
XM_011544669.1:c.724dup	XP_011542971.1:p.Val242GlyfsTer30
NM_032237.5:c.724dup MANE Select	NP_115613.1:p.Val242GlyfsTer30
NM_001277971.2:c.724dup	NP_001264900.1:p.Val242GlyfsTer30