Canonical Allele Identifier: CA1779747891

Gene: POMK

Linked Data

• dbSNP Id: rs1811948414

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122715dup , CM000670.2:g.43122715dup	GRCh38
NC_000008.10:g.42977858dup , CM000670.1:g.42977858dup	GRCh37
NC_000008.9:g.43097015dup	NCBI36
NG_033235.1:g.34210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.891dup MANE Select	ENSP00000331258.5:p.Gly298ArgfsTer3
ENST00000614426.2:c.*687dup	ENSP00000478821.2:n.*687dup
ENST00000674646.1:c.609dup	ENSP00000501703.1:p.Gly204ArgfsTer3
ENST00000674676.1:c.609dup	ENSP00000502544.1:p.Gly204ArgfsTer3
ENST00000674782.1:c.*811dup	ENSP00000501683.1:n.*811dup
ENST00000674937.1:c.849dup	ENSP00000501823.1:p.Gly284ArgfsTer3
ENST00000675322.1:c.609dup	ENSP00000502235.1:p.Gly204ArgfsTer3
ENST00000675675.1:c.609dup	ENSP00000501793.1:p.Gly204ArgfsTer3
ENST00000676178.1:c.*676dup	ENSP00000502007.1:n.*676dup
ENST00000676193.1:c.891dup	ENSP00000502774.1:p.Gly298ArgfsTer3
ENST00000331373.9:c.891dup	ENSP00000331258.5:p.Gly298ArgfsTer3
ENST00000614426.1:c.891dup	ENSP00000478821.1:p.Gly298ArgfsTer3
NM_001277971.1:c.891dup	NP_001264900.1:p.Gly298ArgfsTer3
NM_032237.4:c.891dup	NP_115613.1:p.Gly298ArgfsTer3
XM_011544668.1:c.891dup	XP_011542970.1:p.Gly298ArgfsTer3
XM_011544669.1:c.891dup	XP_011542971.1:p.Gly298ArgfsTer3
NM_032237.5:c.891dup MANE Select	NP_115613.1:p.Gly298ArgfsTer3
NM_001277971.2:c.891dup	NP_001264900.1:p.Gly298ArgfsTer3