Canonical Allele Identifier: CA2573143095

Gene: POMK

Linked Data

• ClinVar Variation Id: 1503550
• ClinVar RCV Id: RCV002025531
• dbSNP Id: rs2130626184

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122098_43122099del , CM000670.2:g.43122098_43122099del	GRCh38
NC_000008.10:g.42977241_42977242del , CM000670.1:g.42977241_42977242del	GRCh37
NC_000008.9:g.43096398_43096399del	NCBI36
NG_033235.1:g.33593_33594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.283-9_283-8del MANE Select	ENSP00000331258.5:n.283-9_283-8del
ENST00000614426.2:c.*79-9_*79-8del	ENSP00000478821.2:n.*79-9_*79-8del
ENST00000674782.1:c.*203-9_*203-8del	ENSP00000501683.1:n.*203-9_*203-8del
ENST00000674937.1:c.241-9_241-8del	ENSP00000501823.1:n.241-9_241-8del
ENST00000676178.1:c.*68-9_*68-8del	ENSP00000502007.1:n.*68-9_*68-8del
ENST00000676193.1:c.283-9_283-8del	ENSP00000502774.1:n.283-9_283-8del
ENST00000331373.9:c.283-9_283-8del	ENSP00000331258.5:n.283-9_283-8del
ENST00000518991.5:c.283-9_283-8del	ENSP00000429090.1:n.283-9_283-8del
ENST00000614426.1:c.283-9_283-8del	ENSP00000478821.1:n.283-9_283-8del
NM_001277971.1:c.283-9_283-8del	NP_001264900.1:n.283-9_283-8del
NM_032237.4:c.283-9_283-8del	NP_115613.1:n.283-9_283-8del
XM_011544668.1:c.283-9_283-8del	XP_011542970.1:n.283-9_283-8del
XM_011544669.1:c.283-9_283-8del	XP_011542971.1:n.283-9_283-8del
NM_032237.5:c.283-9_283-8del MANE Select	NP_115613.1:n.283-9_283-8del
NM_001277971.2:c.283-9_283-8del	NP_001264900.1:n.283-9_283-8del