Canonical Allele Identifier: CA2579158816

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122409_43122430del , CM000670.2:g.43122409_43122430del	GRCh38
NC_000008.10:g.42977552_42977573del , CM000670.1:g.42977552_42977573del	GRCh37
NC_000008.9:g.43096709_43096730del	NCBI36
NG_033235.1:g.33904_33925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.585_606del MANE Select	ENSP00000331258.5:p.Pro196AlafsTer15
ENST00000614426.2:c.*381_*402del	ENSP00000478821.2:n.*381_*402del
ENST00000674646.1:c.303_324del	ENSP00000501703.1:p.Pro102AlafsTer15
ENST00000674676.1:c.303_324del	ENSP00000502544.1:p.Pro102AlafsTer15
ENST00000674782.1:c.*505_*526del	ENSP00000501683.1:n.*505_*526del
ENST00000674937.1:c.543_564del	ENSP00000501823.1:p.Pro182AlafsTer15
ENST00000675322.1:c.303_324del	ENSP00000502235.1:p.Pro102AlafsTer15
ENST00000675675.1:c.303_324del	ENSP00000501793.1:p.Pro102AlafsTer15
ENST00000676178.1:c.*370_*391del	ENSP00000502007.1:n.*370_*391del
ENST00000676193.1:c.585_606del	ENSP00000502774.1:p.Pro196AlafsTer15
ENST00000331373.9:c.585_606del	ENSP00000331258.5:p.Pro196AlafsTer15
ENST00000614426.1:c.585_606del	ENSP00000478821.1:p.Pro196AlafsTer15
NM_001277971.1:c.585_606del	NP_001264900.1:p.Pro196AlafsTer15
NM_032237.4:c.585_606del	NP_115613.1:p.Pro196AlafsTer15
XM_011544668.1:c.585_606del	XP_011542970.1:p.Pro196AlafsTer15
XM_011544669.1:c.585_606del	XP_011542971.1:p.Pro196AlafsTer15
NM_032237.5:c.585_606del MANE Select	NP_115613.1:p.Pro196AlafsTer15
NM_001277971.2:c.585_606del	NP_001264900.1:p.Pro196AlafsTer15