Canonical Allele Identifier: CA2779904272

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122447_43122450del , CM000670.2:g.43122447_43122450del	GRCh38
NC_000008.10:g.42977590_42977593del , CM000670.1:g.42977590_42977593del	GRCh37
NC_000008.9:g.43096747_43096750del	NCBI36
NG_033235.1:g.33942_33945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.623_626del MANE Select	ENSP00000331258.5:p.Leu208ArgfsTer9
ENST00000614426.2:c.*419_*422del	ENSP00000478821.2:n.*419_*422del
ENST00000674646.1:c.341_344del	ENSP00000501703.1:p.Leu114ArgfsTer9
ENST00000674676.1:c.341_344del	ENSP00000502544.1:p.Leu114ArgfsTer9
ENST00000674782.1:c.*543_*546del	ENSP00000501683.1:n.*543_*546del
ENST00000674937.1:c.581_584del	ENSP00000501823.1:p.Leu194ArgfsTer9
ENST00000675322.1:c.341_344del	ENSP00000502235.1:p.Leu114ArgfsTer9
ENST00000675675.1:c.341_344del	ENSP00000501793.1:p.Leu114ArgfsTer9
ENST00000676178.1:c.*408_*411del	ENSP00000502007.1:n.*408_*411del
ENST00000676193.1:c.623_626del	ENSP00000502774.1:p.Leu208ArgfsTer9
ENST00000331373.9:c.623_626del	ENSP00000331258.5:p.Leu208ArgfsTer9
ENST00000614426.1:c.623_626del	ENSP00000478821.1:p.Leu208ArgfsTer9
NM_001277971.1:c.623_626del	NP_001264900.1:p.Leu208ArgfsTer9
NM_032237.4:c.623_626del	NP_115613.1:p.Leu208ArgfsTer9
XM_011544668.1:c.623_626del	XP_011542970.1:p.Leu208ArgfsTer9
XM_011544669.1:c.623_626del	XP_011542971.1:p.Leu208ArgfsTer9
NM_032237.5:c.623_626del MANE Select	NP_115613.1:p.Leu208ArgfsTer9
NM_001277971.2:c.623_626del	NP_001264900.1:p.Leu208ArgfsTer9