Canonical Allele Identifier: CA16043359
Gene: POGZ HGNC NCBI

Linked Data

ClinVar Variation Id: 373957
ClinVar RCV Id: RCV000414962
dbSNP Id: rs1057518799

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151430716_151430723dup , CM000663.2:g.151430716_151430723dup GRCh38
NC_000001.10:g.151403192_151403199dup , CM000663.1:g.151403192_151403199dup GRCh37
NC_000001.9:g.149669816_149669823dup NCBI36
NG_046601.1:g.33743_33750dup

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.450_457dup ENSP00000518163.1:p.His153LeufsTer5
ENST00000392723.6:c.243_250dup ENSP00000376484.1:p.His84LeufsTer5
ENST00000439756.2:c.402_409dup ENSP00000390156.2:p.His137LeufsTer5
ENST00000703168.1:c.423_430dup ENSP00000515214.1:p.His144LeufsTer5
ENST00000703169.1:c.402_409dup ENSP00000515215.1:p.His137LeufsTer5
ENST00000271715.7:c.402_409dup MANE Select ENSP00000271715.2:p.His137LeufsTer5
ENST00000271715.6:c.402_409dup ENSP00000271715.2:p.His137LeufsTer5
ENST00000358476.7:n.271_278dup
ENST00000368863.6:c.284-2310_284-2303dup ENSP00000357856.2:n.284-2310_284-2303dup
ENST00000392723.5:c.243_250dup ENSP00000376484.1:p.His84LeufsTer5
ENST00000409503.5:c.402_409dup ENSP00000386836.1:p.His137LeufsTer5
ENST00000450842.1:c.243_250dup ENSP00000395332.1:p.His84LeufsTer?
ENST00000467287.5:n.280_287dup
ENST00000485040.5:n.431_438dup
ENST00000491586.5:c.243_250dup ENSP00000418408.1:p.His84LeufsTer5
ENST00000531094.5:c.243_250dup ENSP00000431259.1:p.His84LeufsTer5
ENST00000533351.5:c.402_409dup ENSP00000433637.1:p.His137LeufsTer5
ENST00000533461.5:c.402_409dup ENSP00000433934.1:p.His137LeufsTer5
NM_001194937.1:c.402_409dup NP_001181866.1:p.His137LeufsTer5
NM_001194938.1:c.243_250dup NP_001181867.1:p.His84LeufsTer5
NM_015100.3:c.402_409dup NP_055915.2:p.His137LeufsTer5
NM_145796.3:c.284-2310_284-2303dup NP_665739.3:n.284-2310_284-2303dup
NM_207171.2:c.243_250dup NP_997054.1:p.His84LeufsTer5
XM_005244999.1:c.402_409dup XP_005245056.1:p.His137LeufsTer5
XM_005245000.3:c.402_409dup XP_005245057.1:p.His137LeufsTer5
XM_005245001.1:c.402_409dup XP_005245058.1:p.His137LeufsTer5
XM_005245005.1:c.243_250dup XP_005245062.1:p.His84LeufsTer5
XM_005245006.3:c.243_250dup XP_005245063.1:p.His84LeufsTer5
XM_011509330.1:c.294_301dup XP_011507632.1:p.His101LeufsTer5
XM_011509331.1:c.45_52dup XP_011507633.1:p.His18LeufsTer5
XR_921760.1:n.403_410dup
XM_005244999.3:c.402_409dup XP_005245056.1:p.His137LeufsTer5
XM_005245000.4:c.402_409dup XP_005245057.1:p.His137LeufsTer5
XM_005245001.2:c.402_409dup XP_005245058.1:p.His137LeufsTer5
XM_005245005.2:c.243_250dup XP_005245062.1:p.His84LeufsTer5
XM_005245006.5:c.243_250dup XP_005245063.1:p.His84LeufsTer5
XM_017000744.1:c.423_430dup XP_016856233.1:p.His144LeufsTer5
XM_017000745.2:c.402_409dup XP_016856234.1:p.His137LeufsTer5
XM_017000746.1:c.402_409dup XP_016856235.1:p.His137LeufsTer5
XM_017000748.1:c.243_250dup XP_016856237.1:p.His84LeufsTer5
XM_017000749.1:c.243_250dup XP_016856238.1:p.His84LeufsTer5
XM_024454305.1:c.423_430dup XP_024310073.1:p.His144LeufsTer5
XM_024454306.1:c.-1881_-1874dup XP_024310074.1:n.-1881_-1874dup
XR_002959801.1:n.430_437dup
NM_015100.4:c.402_409dup MANE Select NP_055915.2:p.His137LeufsTer5
NM_001194937.2:c.402_409dup NP_001181866.1:p.His137LeufsTer5
NM_001194938.2:c.243_250dup NP_001181867.1:p.His84LeufsTer5
NM_145796.4:c.284-2310_284-2303dup NP_665739.3:n.284-2310_284-2303dup