Canonical Allele Identifier: CA4736393

Gene: POMK

Linked Data

• dbSNP Id: rs749588884
• ExAC: 8:42977979 C / CT
• gnomAD v2: 8-42977979-C-CT
• gnomAD v4: 8-43122836-C-CT
• MyVariant Identifiers: chr8:g.42977979_42977980insT (hg19) ; chr8:g.43122836_43122837insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122838dup , CM000670.2:g.43122838dup	GRCh38
NC_000008.10:g.42977981dup , CM000670.1:g.42977981dup	GRCh37
NC_000008.9:g.43097138dup	NCBI36
NG_033235.1:g.34333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.1014dup MANE Select	ENSP00000331258.5:p.Arg339Ter
ENST00000614426.2:c.*810dup	ENSP00000478821.2:n.*810dup
ENST00000674646.1:c.732dup	ENSP00000501703.1:p.Arg245Ter
ENST00000674676.1:c.732dup	ENSP00000502544.1:p.Arg245Ter
ENST00000674782.1:c.*934dup	ENSP00000501683.1:n.*934dup
ENST00000674937.1:c.972dup	ENSP00000501823.1:p.Arg325Ter
ENST00000675322.1:c.732dup	ENSP00000502235.1:p.Arg245Ter
ENST00000675675.1:c.732dup	ENSP00000501793.1:p.Arg245Ter
ENST00000676178.1:c.*799dup	ENSP00000502007.1:n.*799dup
ENST00000676193.1:c.1014dup	ENSP00000502774.1:p.Arg339Ter
ENST00000331373.9:c.1014dup	ENSP00000331258.5:p.Arg339Ter
ENST00000614426.1:c.1014dup	ENSP00000478821.1:p.Arg339Ter
NM_001277971.1:c.1014dup	NP_001264900.1:p.Arg339Ter
NM_032237.4:c.1014dup	NP_115613.1:p.Arg339Ter
XM_011544668.1:c.1014dup	XP_011542970.1:p.Arg339Ter
XM_011544669.1:c.1014dup	XP_011542971.1:p.Arg339Ter
NM_032237.5:c.1014dup MANE Select	NP_115613.1:p.Arg339Ter
NM_001277971.2:c.1014dup	NP_001264900.1:p.Arg339Ter