Canonical Allele Identifier: CA16616970
Gene: POGZ HGNC NCBI

Linked Data

ClinVar Variation Id: 419656
ClinVar RCV Id: RCV000479146
dbSNP Id: rs1064794021

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406419del , CM000663.2:g.151406419del GRCh38
NC_000001.10:g.151378895del , CM000663.1:g.151378895del GRCh37
NC_000001.9:g.149645519del NCBI36
NG_046601.1:g.58047del

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.2664del ENSP00000518163.1:p.Asn888LysfsTer16
ENST00000392723.6:c.2457del ENSP00000376484.1:p.Asn819LysfsTer16
ENST00000439756.2:c.2616del ENSP00000390156.2:p.Asn872LysfsTer16
ENST00000703168.1:c.2637del ENSP00000515214.1:p.Asn879LysfsTer16
ENST00000271715.7:c.2616del MANE Select ENSP00000271715.2:p.Asn872LysfsTer16
ENST00000271715.6:c.2616del ENSP00000271715.2:p.Asn872LysfsTer16
ENST00000358476.7:n.2764del
ENST00000368863.6:c.2331del ENSP00000357856.2:p.Asn777LysfsTer16
ENST00000392723.5:c.2457del ENSP00000376484.1:p.Asn819LysfsTer16
ENST00000409503.5:c.2589del ENSP00000386836.1:p.Asn863LysfsTer16
ENST00000491586.5:c.2484del ENSP00000418408.1:p.Asn828LysfsTer16
ENST00000529669.1:c.816del ENSP00000432295.1:p.Asn272LysfsTer16
ENST00000531094.5:c.2430del ENSP00000431259.1:p.Asn810LysfsTer16
NM_001194937.1:c.2589del NP_001181866.1:p.Asn863LysfsTer16
NM_001194938.1:c.2430del NP_001181867.1:p.Asn810LysfsTer16
NM_015100.3:c.2616del NP_055915.2:p.Asn872LysfsTer16
NM_145796.3:c.2331del NP_665739.3:p.Asn777LysfsTer16
NM_207171.2:c.2457del NP_997054.1:p.Asn819LysfsTer16
XM_005244999.1:c.2616del XP_005245056.1:p.Asn872LysfsTer16
XM_005245000.3:c.2616del XP_005245057.1:p.Asn872LysfsTer16
XM_005245001.1:c.2616del XP_005245058.1:p.Asn872LysfsTer16
XM_005245005.1:c.2457del XP_005245062.1:p.Asn819LysfsTer16
XM_005245006.3:c.2457del XP_005245063.1:p.Asn819LysfsTer16
XM_011509330.1:c.2508del XP_011507632.1:p.Asn836LysfsTer16
XM_011509331.1:c.2259del XP_011507633.1:p.Asn753LysfsTer16
XR_921760.1:n.2444del
XM_005244999.3:c.2616del XP_005245056.1:p.Asn872LysfsTer16
XM_005245000.4:c.2616del XP_005245057.1:p.Asn872LysfsTer16
XM_005245001.2:c.2616del XP_005245058.1:p.Asn872LysfsTer16
XM_005245005.2:c.2457del XP_005245062.1:p.Asn819LysfsTer16
XM_005245006.5:c.2457del XP_005245063.1:p.Asn819LysfsTer16
XM_017000744.1:c.2637del XP_016856233.1:p.Asn879LysfsTer16
XM_017000745.2:c.2589del XP_016856234.1:p.Asn863LysfsTer16
XM_017000746.1:c.2589del XP_016856235.1:p.Asn863LysfsTer16
XM_017000748.1:c.2457del XP_016856237.1:p.Asn819LysfsTer16
XM_017000749.1:c.2457del XP_016856238.1:p.Asn819LysfsTer16
XM_024454305.1:c.2490del XP_024310073.1:p.Asn830LysfsTer16
XM_024454306.1:c.1416del XP_024310074.1:p.Asn472LysfsTer16
XR_002959801.1:n.2471del
NM_015100.4:c.2616del MANE Select NP_055915.2:p.Asn872LysfsTer16
NM_001194937.2:c.2589del NP_001181866.1:p.Asn863LysfsTer16
NM_001194938.2:c.2430del NP_001181867.1:p.Asn810LysfsTer16
NM_145796.4:c.2331del NP_665739.3:p.Asn777LysfsTer16