Canonical Allele Identifier: CA2687148610

Gene: POMK

Linked Data

• gnomAD v4: 8-43122780-CAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122784_43122787del , CM000670.2:g.43122784_43122787del	GRCh38
NC_000008.10:g.42977927_42977930del , CM000670.1:g.42977927_42977930del	GRCh37
NC_000008.9:g.43097084_43097087del	NCBI36
NG_033235.1:g.34279_34282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.960_963del MANE Select	ENSP00000331258.5:p.Glu320AspfsTer22
ENST00000614426.2:c.*756_*759del	ENSP00000478821.2:n.*756_*759del
ENST00000674646.1:c.678_681del	ENSP00000501703.1:p.Glu226AspfsTer22
ENST00000674676.1:c.678_681del	ENSP00000502544.1:p.Glu226AspfsTer22
ENST00000674782.1:c.*880_*883del	ENSP00000501683.1:n.*880_*883del
ENST00000674937.1:c.918_921del	ENSP00000501823.1:p.Glu306AspfsTer22
ENST00000675322.1:c.678_681del	ENSP00000502235.1:p.Glu226AspfsTer22
ENST00000675675.1:c.678_681del	ENSP00000501793.1:p.Glu226AspfsTer22
ENST00000676178.1:c.*745_*748del	ENSP00000502007.1:n.*745_*748del
ENST00000676193.1:c.960_963del	ENSP00000502774.1:p.Glu320AspfsTer22
ENST00000331373.9:c.960_963del	ENSP00000331258.5:p.Glu320AspfsTer22
ENST00000614426.1:c.960_963del	ENSP00000478821.1:p.Glu320AspfsTer22
NM_001277971.1:c.960_963del	NP_001264900.1:p.Glu320AspfsTer22
NM_032237.4:c.960_963del	NP_115613.1:p.Glu320AspfsTer22
XM_011544668.1:c.960_963del	XP_011542970.1:p.Glu320AspfsTer22
XM_011544669.1:c.960_963del	XP_011542971.1:p.Glu320AspfsTer22
NM_032237.5:c.960_963del MANE Select	NP_115613.1:p.Glu320AspfsTer22
NM_001277971.2:c.960_963del	NP_001264900.1:p.Glu320AspfsTer22