Canonical Allele Identifier: CA1779747268

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122376_43122378delinsCTA , CM000670.2:g.43122376_43122378delinsCTA	GRCh38
NC_000008.10:g.42977519_42977521delinsCTA , CM000670.1:g.42977519_42977521delinsCTA	GRCh37
NC_000008.9:g.43096676_43096678delinsCTA	NCBI36
NG_033235.1:g.33871_33873delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.552_554delinsCTA MANE Select	ENSP00000331258.5:p.Asp184=
ENST00000614426.2:c.*348_*350delinsCTA	ENSP00000478821.2:n.*348_*350delinsCTA
ENST00000674646.1:c.270_272delinsCTA	ENSP00000501703.1:p.Asp90=
ENST00000674676.1:c.270_272delinsCTA	ENSP00000502544.1:p.Asp90=
ENST00000674782.1:c.*472_*474delinsCTA	ENSP00000501683.1:n.*472_*474delinsCTA
ENST00000674937.1:c.510_512delinsCTA	ENSP00000501823.1:p.Asp170=
ENST00000675322.1:c.270_272delinsCTA	ENSP00000502235.1:p.Asp90=
ENST00000675675.1:c.270_272delinsCTA	ENSP00000501793.1:p.Asp90=
ENST00000676178.1:c.*337_*339delinsCTA	ENSP00000502007.1:n.*337_*339delinsCTA
ENST00000676193.1:c.552_554delinsCTA	ENSP00000502774.1:p.Asp184=
ENST00000331373.9:c.552_554delinsCTA	ENSP00000331258.5:p.Asp184=
ENST00000614426.1:c.552_554delinsCTA	ENSP00000478821.1:p.Asp184=
NM_001277971.1:c.552_554delinsCTA	NP_001264900.1:p.Asp184=
NM_032237.4:c.552_554delinsCTA	NP_115613.1:p.Asp184=
XM_011544668.1:c.552_554delinsCTA	XP_011542970.1:p.Asp184=
XM_011544669.1:c.552_554delinsCTA	XP_011542971.1:p.Asp184=
NM_032237.5:c.552_554delinsCTA MANE Select	NP_115613.1:p.Asp184=
NM_001277971.2:c.552_554delinsCTA	NP_001264900.1:p.Asp184=