Canonical Allele Identifier: CA1779747212

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122329_43122330delinsTA , CM000670.2:g.43122329_43122330delinsTA	GRCh38
NC_000008.10:g.42977472_42977473delinsTA , CM000670.1:g.42977472_42977473delinsTA	GRCh37
NC_000008.9:g.43096629_43096630delinsTA	NCBI36
NG_033235.1:g.33824_33825delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.505_506delinsTA MANE Select	ENSP00000331258.5:p.Tyr169=
ENST00000614426.2:c.*301_*302delinsTA	ENSP00000478821.2:n.*301_*302delinsTA
ENST00000674646.1:c.223_224delinsTA	ENSP00000501703.1:p.Tyr75=
ENST00000674676.1:c.223_224delinsTA	ENSP00000502544.1:p.Tyr75=
ENST00000674782.1:c.*425_*426delinsTA	ENSP00000501683.1:n.*425_*426delinsTA
ENST00000674937.1:c.463_464delinsTA	ENSP00000501823.1:p.Tyr155=
ENST00000675322.1:c.223_224delinsTA	ENSP00000502235.1:p.Tyr75=
ENST00000675675.1:c.223_224delinsTA	ENSP00000501793.1:p.Tyr75=
ENST00000676178.1:c.*290_*291delinsTA	ENSP00000502007.1:n.*290_*291delinsTA
ENST00000676193.1:c.505_506delinsTA	ENSP00000502774.1:p.Tyr169=
ENST00000331373.9:c.505_506delinsTA	ENSP00000331258.5:p.Tyr169=
ENST00000614426.1:c.505_506delinsTA	ENSP00000478821.1:p.Tyr169=
NM_001277971.1:c.505_506delinsTA	NP_001264900.1:p.Tyr169=
NM_032237.4:c.505_506delinsTA	NP_115613.1:p.Tyr169=
XM_011544668.1:c.505_506delinsTA	XP_011542970.1:p.Tyr169=
XM_011544669.1:c.505_506delinsTA	XP_011542971.1:p.Tyr169=
NM_032237.5:c.505_506delinsTA MANE Select	NP_115613.1:p.Tyr169=
NM_001277971.2:c.505_506delinsTA	NP_001264900.1:p.Tyr169=