Canonical Allele Identifier: CA1139656308

Gene: POGZ

Linked Data

• ClinVar Variation Id: 978915
• ClinVar RCV Id: RCV001257704
• dbSNP Id: rs1653647344

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406461del , CM000663.2:g.151406461del	GRCh38
NC_000001.10:g.151378937del , CM000663.1:g.151378937del	GRCh37
NC_000001.9:g.149645561del	NCBI36
NG_046601.1:g.58005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2622del	ENSP00000518163.1:p.His874GlnfsTer13
ENST00000392723.6:c.2415del	ENSP00000376484.1:p.His805GlnfsTer13
ENST00000439756.2:c.2574del	ENSP00000390156.2:p.His858GlnfsTer13
ENST00000703168.1:c.2595del	ENSP00000515214.1:p.His865GlnfsTer13
ENST00000271715.7:c.2574del MANE Select	ENSP00000271715.2:p.His858GlnfsTer13
ENST00000271715.6:c.2574del	ENSP00000271715.2:p.His858GlnfsTer13
ENST00000358476.7:n.2722del
ENST00000368863.6:c.2289del	ENSP00000357856.2:p.His763GlnfsTer13
ENST00000392723.5:c.2415del	ENSP00000376484.1:p.His805GlnfsTer13
ENST00000409503.5:c.2547del	ENSP00000386836.1:p.His849GlnfsTer13
ENST00000491586.5:c.2442del	ENSP00000418408.1:p.His814GlnfsTer13
ENST00000529669.1:c.774del	ENSP00000432295.1:p.His258GlnfsTer13
ENST00000531094.5:c.2388del	ENSP00000431259.1:p.His796GlnfsTer13
NM_001194937.1:c.2547del	NP_001181866.1:p.His849GlnfsTer13
NM_001194938.1:c.2388del	NP_001181867.1:p.His796GlnfsTer13
NM_015100.3:c.2574del	NP_055915.2:p.His858GlnfsTer13
NM_145796.3:c.2289del	NP_665739.3:p.His763GlnfsTer13
NM_207171.2:c.2415del	NP_997054.1:p.His805GlnfsTer13
XM_005244999.1:c.2574del	XP_005245056.1:p.His858GlnfsTer13
XM_005245000.3:c.2574del	XP_005245057.1:p.His858GlnfsTer13
XM_005245001.1:c.2574del	XP_005245058.1:p.His858GlnfsTer13
XM_005245005.1:c.2415del	XP_005245062.1:p.His805GlnfsTer13
XM_005245006.3:c.2415del	XP_005245063.1:p.His805GlnfsTer13
XM_011509330.1:c.2466del	XP_011507632.1:p.His822GlnfsTer13
XM_011509331.1:c.2217del	XP_011507633.1:p.His739GlnfsTer13
XR_921760.1:n.2402del
XM_005244999.3:c.2574del	XP_005245056.1:p.His858GlnfsTer13
XM_005245000.4:c.2574del	XP_005245057.1:p.His858GlnfsTer13
XM_005245001.2:c.2574del	XP_005245058.1:p.His858GlnfsTer13
XM_005245005.2:c.2415del	XP_005245062.1:p.His805GlnfsTer13
XM_005245006.5:c.2415del	XP_005245063.1:p.His805GlnfsTer13
XM_017000744.1:c.2595del	XP_016856233.1:p.His865GlnfsTer13
XM_017000745.2:c.2547del	XP_016856234.1:p.His849GlnfsTer13
XM_017000746.1:c.2547del	XP_016856235.1:p.His849GlnfsTer13
XM_017000748.1:c.2415del	XP_016856237.1:p.His805GlnfsTer13
XM_017000749.1:c.2415del	XP_016856238.1:p.His805GlnfsTer13
XM_024454305.1:c.2448del	XP_024310073.1:p.His816GlnfsTer13
XM_024454306.1:c.1374del	XP_024310074.1:p.His458GlnfsTer13
XR_002959801.1:n.2429del
NM_015100.4:c.2574del MANE Select	NP_055915.2:p.His858GlnfsTer13
NM_001194937.2:c.2547del	NP_001181866.1:p.His849GlnfsTer13
NM_001194938.2:c.2388del	NP_001181867.1:p.His796GlnfsTer13
NM_145796.4:c.2289del	NP_665739.3:p.His763GlnfsTer13