Canonical Allele Identifier: CA319619
Gene: POGZ HGNC NCBI

Linked Data

ClinVar Variation Id: 207800
ClinVar RCV Id: RCV000190096
dbSNP Id: rs796052220

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151408447_151408448del , CM000663.2:g.151408447_151408448del GRCh38
NC_000001.10:g.151380923_151380924del , CM000663.1:g.151380923_151380924del GRCh37
NC_000001.9:g.149647547_149647548del NCBI36
NG_046601.1:g.56018_56019del

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.2243_2244del ENSP00000518163.1:p.Pro748ArgfsTer11
ENST00000392723.6:c.2036_2037del ENSP00000376484.1:p.Pro679ArgfsTer11
ENST00000439756.2:c.2195_2196del ENSP00000390156.2:p.Pro732ArgfsTer11
ENST00000703168.1:c.2216_2217del ENSP00000515214.1:p.Pro739ArgfsTer11
ENST00000271715.7:c.2195_2196del MANE Select ENSP00000271715.2:p.Pro732ArgfsTer11
ENST00000271715.6:c.2195_2196del ENSP00000271715.2:p.Pro732ArgfsTer11
ENST00000358476.7:n.2064_2065del
ENST00000368863.6:c.1910_1911del ENSP00000357856.2:p.Pro637ArgfsTer11
ENST00000392723.5:c.2036_2037del ENSP00000376484.1:p.Pro679ArgfsTer11
ENST00000409503.5:c.2168_2169del ENSP00000386836.1:p.Pro723ArgfsTer11
ENST00000491586.5:c.2063_2064del ENSP00000418408.1:p.Pro688ArgfsTer11
ENST00000492528.1:n.106_107del
ENST00000529669.1:c.395_396del ENSP00000432295.1:p.Pro132ArgfsTer11
ENST00000531094.5:c.2009_2010del ENSP00000431259.1:p.Pro670ArgfsTer11
NM_001194937.1:c.2168_2169del NP_001181866.1:p.Pro723ArgfsTer11
NM_001194938.1:c.2009_2010del NP_001181867.1:p.Pro670ArgfsTer11
NM_015100.3:c.2195_2196del NP_055915.2:p.Pro732ArgfsTer11
NM_145796.3:c.1910_1911del NP_665739.3:p.Pro637ArgfsTer11
NM_207171.2:c.2036_2037del NP_997054.1:p.Pro679ArgfsTer11
XM_005244999.1:c.2195_2196del XP_005245056.1:p.Pro732ArgfsTer11
XM_005245000.3:c.2195_2196del XP_005245057.1:p.Pro732ArgfsTer11
XM_005245001.1:c.2195_2196del XP_005245058.1:p.Pro732ArgfsTer11
XM_005245005.1:c.2036_2037del XP_005245062.1:p.Pro679ArgfsTer11
XM_005245006.3:c.2036_2037del XP_005245063.1:p.Pro679ArgfsTer11
XM_011509330.1:c.2087_2088del XP_011507632.1:p.Pro696ArgfsTer11
XM_011509331.1:c.1838_1839del XP_011507633.1:p.Pro613ArgfsTer11
XR_921760.1:n.2063-208_2063-207del
XM_005244999.3:c.2195_2196del XP_005245056.1:p.Pro732ArgfsTer11
XM_005245000.4:c.2195_2196del XP_005245057.1:p.Pro732ArgfsTer11
XM_005245001.2:c.2195_2196del XP_005245058.1:p.Pro732ArgfsTer11
XM_005245005.2:c.2036_2037del XP_005245062.1:p.Pro679ArgfsTer11
XM_005245006.5:c.2036_2037del XP_005245063.1:p.Pro679ArgfsTer11
XM_017000744.1:c.2216_2217del XP_016856233.1:p.Pro739ArgfsTer11
XM_017000745.2:c.2168_2169del XP_016856234.1:p.Pro723ArgfsTer11
XM_017000746.1:c.2168_2169del XP_016856235.1:p.Pro723ArgfsTer11
XM_017000748.1:c.2036_2037del XP_016856237.1:p.Pro679ArgfsTer11
XM_017000749.1:c.2036_2037del XP_016856238.1:p.Pro679ArgfsTer11
XM_024454305.1:c.2069_2070del XP_024310073.1:p.Pro690ArgfsTer11
XM_024454306.1:c.995_996del XP_024310074.1:p.Pro332ArgfsTer11
XR_002959801.1:n.2090-208_2090-207del
NM_015100.4:c.2195_2196del MANE Select NP_055915.2:p.Pro732ArgfsTer11
NM_001194937.2:c.2168_2169del NP_001181866.1:p.Pro723ArgfsTer11
NM_001194938.2:c.2009_2010del NP_001181867.1:p.Pro670ArgfsTer11
NM_145796.4:c.1910_1911del NP_665739.3:p.Pro637ArgfsTer11