Canonical Allele Identifier: CA2687148312

Gene: POMK

Linked Data

• gnomAD v4: 8-43122413-GTGGGCACACGGGTCATGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122414_43122431del , CM000670.2:g.43122414_43122431del	GRCh38
NC_000008.10:g.42977557_42977574del , CM000670.1:g.42977557_42977574del	GRCh37
NC_000008.9:g.43096714_43096731del	NCBI36
NG_033235.1:g.33909_33926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.590_607del MANE Select	ENSP00000331258.5:p.Val197_Cys203delinsGly
ENST00000614426.2:c.*386_*403del	ENSP00000478821.2:n.*386_*403del
ENST00000674646.1:c.308_325del	ENSP00000501703.1:p.Val103_Cys109delinsGly
ENST00000674676.1:c.308_325del	ENSP00000502544.1:p.Val103_Cys109delinsGly
ENST00000674782.1:c.*510_*527del	ENSP00000501683.1:n.*510_*527del
ENST00000674937.1:c.548_565del	ENSP00000501823.1:p.Val183_Cys189delinsGly
ENST00000675322.1:c.308_325del	ENSP00000502235.1:p.Val103_Cys109delinsGly
ENST00000675675.1:c.308_325del	ENSP00000501793.1:p.Val103_Cys109delinsGly
ENST00000676178.1:c.*375_*392del	ENSP00000502007.1:n.*375_*392del
ENST00000676193.1:c.590_607del	ENSP00000502774.1:p.Val197_Cys203delinsGly
ENST00000331373.9:c.590_607del	ENSP00000331258.5:p.Val197_Cys203delinsGly
ENST00000614426.1:c.590_607del	ENSP00000478821.1:p.Val197_Cys203delinsGly
NM_001277971.1:c.590_607del	NP_001264900.1:p.Val197_Cys203delinsGly
NM_032237.4:c.590_607del	NP_115613.1:p.Val197_Cys203delinsGly
XM_011544668.1:c.590_607del	XP_011542970.1:p.Val197_Cys203delinsGly
XM_011544669.1:c.590_607del	XP_011542971.1:p.Val197_Cys203delinsGly
NM_032237.5:c.590_607del MANE Select	NP_115613.1:p.Val197_Cys203delinsGly
NM_001277971.2:c.590_607del	NP_001264900.1:p.Val197_Cys203delinsGly