Canonical Allele Identifier: CA1779747862

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122702_43122715delinsTGGGGCACATTGAA , CM000670.2:g.43122702_43122715delinsTGGGGCACATTGAA	GRCh38
NC_000008.10:g.42977845_42977858delinsTGGGGCACATTGAA , CM000670.1:g.42977845_42977858delinsTGGGGCACATTGAA	GRCh37
NC_000008.9:g.43097002_43097015delinsTGGGGCACATTGAA	NCBI36
NG_033235.1:g.34197_34210delinsTGGGGCACATTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.878_891delinsTGGGGCACATTGAA MANE Select	ENSP00000331258.5:p.Leu293=
ENST00000614426.2:c.*674_*687delinsTGGGGCACATTGAA	ENSP00000478821.2:n.*674_*687delinsTGGGGCACATTGAA
ENST00000674646.1:c.596_609delinsTGGGGCACATTGAA	ENSP00000501703.1:p.Leu199=
ENST00000674676.1:c.596_609delinsTGGGGCACATTGAA	ENSP00000502544.1:p.Leu199=
ENST00000674782.1:c.*798_*811delinsTGGGGCACATTGAA	ENSP00000501683.1:n.*798_*811delinsTGGGGCACATTGAA
ENST00000674937.1:c.836_849delinsTGGGGCACATTGAA	ENSP00000501823.1:p.Leu279=
ENST00000675322.1:c.596_609delinsTGGGGCACATTGAA	ENSP00000502235.1:p.Leu199=
ENST00000675675.1:c.596_609delinsTGGGGCACATTGAA	ENSP00000501793.1:p.Leu199=
ENST00000676178.1:c.*663_*676delinsTGGGGCACATTGAA	ENSP00000502007.1:n.*663_*676delinsTGGGGCACATTGAA
ENST00000676193.1:c.878_891delinsTGGGGCACATTGAA	ENSP00000502774.1:p.Leu293=
ENST00000331373.9:c.878_891delinsTGGGGCACATTGAA	ENSP00000331258.5:p.Leu293=
ENST00000614426.1:c.878_891delinsTGGGGCACATTGAA	ENSP00000478821.1:p.Leu293=
NM_001277971.1:c.878_891delinsTGGGGCACATTGAA	NP_001264900.1:p.Leu293=
NM_032237.4:c.878_891delinsTGGGGCACATTGAA	NP_115613.1:p.Leu293=
XM_011544668.1:c.878_891delinsTGGGGCACATTGAA	XP_011542970.1:p.Leu293=
XM_011544669.1:c.878_891delinsTGGGGCACATTGAA	XP_011542971.1:p.Leu293=
NM_032237.5:c.878_891delinsTGGGGCACATTGAA MANE Select	NP_115613.1:p.Leu293=
NM_001277971.2:c.878_891delinsTGGGGCACATTGAA	NP_001264900.1:p.Leu293=