Canonical Allele Identifier: CA319615
Gene: POGZ HGNC NCBI

Linked Data

ClinVar Variation Id: 207796
ClinVar RCV Id: RCV000190092
dbSNP Id: rs796052215

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406394del , CM000663.2:g.151406394del GRCh38
NC_000001.10:g.151378870del , CM000663.1:g.151378870del GRCh37
NC_000001.9:g.149645494del NCBI36
NG_046601.1:g.58072del

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.2689del ENSP00000518163.1:p.Thr897LeufsTer7
ENST00000392723.6:c.2482del ENSP00000376484.1:p.Thr828LeufsTer7
ENST00000439756.2:c.2641del ENSP00000390156.2:p.Thr881LeufsTer7
ENST00000703168.1:c.2662del ENSP00000515214.1:p.Thr888LeufsTer7
ENST00000271715.7:c.2641del MANE Select ENSP00000271715.2:p.Thr881LeufsTer7
ENST00000271715.6:c.2641del ENSP00000271715.2:p.Thr881LeufsTer7
ENST00000358476.7:n.2789del
ENST00000368863.6:c.2356del ENSP00000357856.2:p.Thr786LeufsTer7
ENST00000392723.5:c.2482del ENSP00000376484.1:p.Thr828LeufsTer7
ENST00000409503.5:c.2614del ENSP00000386836.1:p.Thr872LeufsTer7
ENST00000491586.5:c.2509del ENSP00000418408.1:p.Thr837LeufsTer7
ENST00000529669.1:c.841del ENSP00000432295.1:p.Thr281LeufsTer7
ENST00000531094.5:c.2455del ENSP00000431259.1:p.Thr819LeufsTer7
NM_001194937.1:c.2614del NP_001181866.1:p.Thr872LeufsTer7
NM_001194938.1:c.2455del NP_001181867.1:p.Thr819LeufsTer7
NM_015100.3:c.2641del NP_055915.2:p.Thr881LeufsTer7
NM_145796.3:c.2356del NP_665739.3:p.Thr786LeufsTer7
NM_207171.2:c.2482del NP_997054.1:p.Thr828LeufsTer7
XM_005244999.1:c.2641del XP_005245056.1:p.Thr881LeufsTer7
XM_005245000.3:c.2641del XP_005245057.1:p.Thr881LeufsTer7
XM_005245001.1:c.2641del XP_005245058.1:p.Thr881LeufsTer7
XM_005245005.1:c.2482del XP_005245062.1:p.Thr828LeufsTer7
XM_005245006.3:c.2482del XP_005245063.1:p.Thr828LeufsTer7
XM_011509330.1:c.2533del XP_011507632.1:p.Thr845LeufsTer7
XM_011509331.1:c.2284del XP_011507633.1:p.Thr762LeufsTer7
XR_921760.1:n.2469del
XM_005244999.3:c.2641del XP_005245056.1:p.Thr881LeufsTer7
XM_005245000.4:c.2641del XP_005245057.1:p.Thr881LeufsTer7
XM_005245001.2:c.2641del XP_005245058.1:p.Thr881LeufsTer7
XM_005245005.2:c.2482del XP_005245062.1:p.Thr828LeufsTer7
XM_005245006.5:c.2482del XP_005245063.1:p.Thr828LeufsTer7
XM_017000744.1:c.2662del XP_016856233.1:p.Thr888LeufsTer7
XM_017000745.2:c.2614del XP_016856234.1:p.Thr872LeufsTer7
XM_017000746.1:c.2614del XP_016856235.1:p.Thr872LeufsTer7
XM_017000748.1:c.2482del XP_016856237.1:p.Thr828LeufsTer7
XM_017000749.1:c.2482del XP_016856238.1:p.Thr828LeufsTer7
XM_024454305.1:c.2515del XP_024310073.1:p.Thr839LeufsTer7
XM_024454306.1:c.1441del XP_024310074.1:p.Thr481LeufsTer7
XR_002959801.1:n.2496del
NM_015100.4:c.2641del MANE Select NP_055915.2:p.Thr881LeufsTer7
NM_001194937.2:c.2614del NP_001181866.1:p.Thr872LeufsTer7
NM_001194938.2:c.2455del NP_001181867.1:p.Thr819LeufsTer7
NM_145796.4:c.2356del NP_665739.3:p.Thr786LeufsTer7