Canonical Allele Identifier: CA2779904289

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122647_43122652del , CM000670.2:g.43122647_43122652del	GRCh38
NC_000008.10:g.42977790_42977795del , CM000670.1:g.42977790_42977795del	GRCh37
NC_000008.9:g.43096947_43096952del	NCBI36
NG_033235.1:g.34142_34147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.823_828del MANE Select	ENSP00000331258.5:p.Ser275_Tyr276del
ENST00000614426.2:c.*619_*624del	ENSP00000478821.2:n.*619_*624del
ENST00000674646.1:c.541_546del	ENSP00000501703.1:p.Ser181_Tyr182del
ENST00000674676.1:c.541_546del	ENSP00000502544.1:p.Ser181_Tyr182del
ENST00000674782.1:c.*743_*748del	ENSP00000501683.1:n.*743_*748del
ENST00000674937.1:c.781_786del	ENSP00000501823.1:p.Ser261_Tyr262del
ENST00000675322.1:c.541_546del	ENSP00000502235.1:p.Ser181_Tyr182del
ENST00000675675.1:c.541_546del	ENSP00000501793.1:p.Ser181_Tyr182del
ENST00000676178.1:c.*608_*613del	ENSP00000502007.1:n.*608_*613del
ENST00000676193.1:c.823_828del	ENSP00000502774.1:p.Ser275_Tyr276del
ENST00000331373.9:c.823_828del	ENSP00000331258.5:p.Ser275_Tyr276del
ENST00000614426.1:c.823_828del	ENSP00000478821.1:p.Ser275_Tyr276del
NM_001277971.1:c.823_828del	NP_001264900.1:p.Ser275_Tyr276del
NM_032237.4:c.823_828del	NP_115613.1:p.Ser275_Tyr276del
XM_011544668.1:c.823_828del	XP_011542970.1:p.Ser275_Tyr276del
XM_011544669.1:c.823_828del	XP_011542971.1:p.Ser275_Tyr276del
NM_032237.5:c.823_828del MANE Select	NP_115613.1:p.Ser275_Tyr276del
NM_001277971.2:c.823_828del	NP_001264900.1:p.Ser275_Tyr276del