Canonical Allele Identifier: CA2687148572

Gene: POMK

Linked Data

• gnomAD v4: 8-43122709-CATTGAAGGGAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122712_43122724del , CM000670.2:g.43122712_43122724del	GRCh38
NC_000008.10:g.42977855_42977867del , CM000670.1:g.42977855_42977867del	GRCh37
NC_000008.9:g.43097012_43097024del	NCBI36
NG_033235.1:g.34207_34219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.888_900del MANE Select	ENSP00000331258.5:p.Glu297TrpfsTer?
ENST00000614426.2:c.*684_*696del	ENSP00000478821.2:n.*684_*696del
ENST00000674646.1:c.606_618del	ENSP00000501703.1:p.Glu203TrpfsTer?
ENST00000674676.1:c.606_618del	ENSP00000502544.1:p.Glu203TrpfsTer?
ENST00000674782.1:c.*808_*820del	ENSP00000501683.1:n.*808_*820del
ENST00000674937.1:c.846_858del	ENSP00000501823.1:p.Glu283TrpfsTer?
ENST00000675322.1:c.606_618del	ENSP00000502235.1:p.Glu203TrpfsTer?
ENST00000675675.1:c.606_618del	ENSP00000501793.1:p.Glu203TrpfsTer?
ENST00000676178.1:c.*673_*685del	ENSP00000502007.1:n.*673_*685del
ENST00000676193.1:c.888_900del	ENSP00000502774.1:p.Glu297TrpfsTer?
ENST00000331373.9:c.888_900del	ENSP00000331258.5:p.Glu297TrpfsTer?
ENST00000614426.1:c.888_900del	ENSP00000478821.1:p.Glu297TrpfsTer?
NM_001277971.1:c.888_900del	NP_001264900.1:p.Glu297TrpfsTer?
NM_032237.4:c.888_900del	NP_115613.1:p.Glu297TrpfsTer?
XM_011544668.1:c.888_900del	XP_011542970.1:p.Glu297TrpfsTer?
XM_011544669.1:c.888_900del	XP_011542971.1:p.Glu297TrpfsTer?
NM_032237.5:c.888_900del MANE Select	NP_115613.1:p.Glu297TrpfsTer?
NM_001277971.2:c.888_900del	NP_001264900.1:p.Glu297TrpfsTer?