Canonical Allele Identifier: CA176081133

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43123070del , CM000670.2:g.43123070del	GRCh38
NC_000008.10:g.42978213del , CM000670.1:g.42978213del	GRCh37
NC_000008.9:g.43097370del	NCBI36
NG_033235.1:g.34565del

Transcript Alleles

HGVS	Amino-acid Change
NM_032237.5:c.*193del MANE Select	NP_115613.1:n.*193del
ENST00000331373.10:c.*193del MANE Select	ENSP00000331258.5:n.*193del
NM_001277971.1:c.*193del	NP_001264900.1:n.*193del
NM_001277971.2:c.*193del	NP_001264900.1:n.*193del
NM_032237.4:c.*193del	NP_115613.1:n.*193del
ENST00000331373.9:c.*193del	ENSP00000331258.5:n.*193del
ENST00000614426.1:c.*193del	ENSP00000478821.1:n.*193del
ENST00000614426.2:c.*1042del	ENSP00000478821.2:n.*1042del
ENST00000674646.1:c.964del	ENSP00000501703.1:n.964del
ENST00000674676.1:c.792+172del	ENSP00000502544.1:n.792+172del
ENST00000674782.1:c.*1166del	ENSP00000501683.1:n.*1166del
ENST00000674937.1:c.*193del	ENSP00000501823.1:n.*193del
ENST00000675322.1:c.964del	ENSP00000502235.1:n.964del
ENST00000675675.1:c.792+172del	ENSP00000501793.1:n.792+172del
ENST00000676178.1:c.*1031del	ENSP00000502007.1:n.*1031del
ENST00000676193.1:c.*193del	ENSP00000502774.1:n.*193del
XM_011544668.1:c.*193del	XP_011542970.1:n.*193del
XM_011544669.1:c.*193del	XP_011542971.1:n.*193del