Canonical Allele Identifier: CA2687148174

Gene: POMK

Linked Data

• gnomAD v4: 8-43122292-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122294del , CM000670.2:g.43122294del	GRCh38
NC_000008.10:g.42977437del , CM000670.1:g.42977437del	GRCh37
NC_000008.9:g.43096594del	NCBI36
NG_033235.1:g.33789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.470del MANE Select	ENSP00000331258.5:p.Leu157Ter
ENST00000614426.2:c.*266del	ENSP00000478821.2:n.*266del
ENST00000674646.1:c.188del	ENSP00000501703.1:p.Leu63Ter
ENST00000674676.1:c.188del	ENSP00000502544.1:p.Leu63Ter
ENST00000674782.1:c.*390del	ENSP00000501683.1:n.*390del
ENST00000674937.1:c.428del	ENSP00000501823.1:p.Leu143Ter
ENST00000675322.1:c.188del	ENSP00000502235.1:p.Leu63Ter
ENST00000675675.1:c.188del	ENSP00000501793.1:p.Leu63Ter
ENST00000676178.1:c.*255del	ENSP00000502007.1:n.*255del
ENST00000676193.1:c.470del	ENSP00000502774.1:p.Leu157Ter
ENST00000331373.9:c.470del	ENSP00000331258.5:p.Leu157Ter
ENST00000614426.1:c.470del	ENSP00000478821.1:p.Leu157Ter
NM_001277971.1:c.470del	NP_001264900.1:p.Leu157Ter
NM_032237.4:c.470del	NP_115613.1:p.Leu157Ter
XM_011544668.1:c.470del	XP_011542970.1:p.Leu157Ter
XM_011544669.1:c.470del	XP_011542971.1:p.Leu157Ter
NM_032237.5:c.470del MANE Select	NP_115613.1:p.Leu157Ter
NM_001277971.2:c.470del	NP_001264900.1:p.Leu157Ter