Canonical Allele Identifier: CA658795512
Gene: POGZ HGNC NCBI

Linked Data

ClinVar Variation Id: 521502
ClinVar RCV Id: RCV000623084

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151404931_151404932delinsCT , CM000663.2:g.151404931_151404932delinsCT GRCh38
NC_000001.10:g.151377407_151377408delinsCT , CM000663.1:g.151377407_151377408delinsCT GRCh37
NC_000001.9:g.149644031_149644032delinsCT NCBI36
NG_046601.1:g.59534_59535delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.4151_4152delinsAG ENSP00000518163.1:p.Thr1384Lys
ENST00000392723.6:c.3944_3945delinsAG ENSP00000376484.1:p.Thr1315Lys
ENST00000439756.2:c.4103_4104delinsAG ENSP00000390156.2:p.Thr1368Lys
ENST00000703168.1:c.4124_4125delinsAG ENSP00000515214.1:p.Thr1375Lys
ENST00000271715.7:c.4103_4104delinsAG MANE Select ENSP00000271715.2:p.Thr1368Lys
ENST00000271715.6:c.4103_4104delinsAG ENSP00000271715.2:p.Thr1368Lys
ENST00000358476.7:n.4251_4252delinsAG
ENST00000368863.6:c.3818_3819delinsAG ENSP00000357856.2:p.Thr1273Lys
ENST00000392723.5:c.3944_3945delinsAG ENSP00000376484.1:p.Thr1315Lys
ENST00000409503.5:c.4076_4077delinsAG ENSP00000386836.1:p.Thr1359Lys
ENST00000491586.5:c.3971_3972delinsAG ENSP00000418408.1:p.Thr1324Lys
ENST00000531094.5:c.3917_3918delinsAG ENSP00000431259.1:p.Thr1306Lys
NM_001194937.1:c.4076_4077delinsAG NP_001181866.1:p.Thr1359Lys
NM_001194938.1:c.3917_3918delinsAG NP_001181867.1:p.Thr1306Lys
NM_015100.3:c.4103_4104delinsAG NP_055915.2:p.Thr1368Lys
NM_145796.3:c.3818_3819delinsAG NP_665739.3:p.Thr1273Lys
NM_207171.2:c.3944_3945delinsAG NP_997054.1:p.Thr1315Lys
XM_005244999.1:c.4103_4104delinsAG XP_005245056.1:p.Thr1368Lys
XM_005245000.3:c.4103_4104delinsAG XP_005245057.1:p.Thr1368Lys
XM_005245001.1:c.4103_4104delinsAG XP_005245058.1:p.Thr1368Lys
XM_005245005.1:c.3944_3945delinsAG XP_005245062.1:p.Thr1315Lys
XM_005245006.3:c.3944_3945delinsAG XP_005245063.1:p.Thr1315Lys
XM_011509330.1:c.3995_3996delinsAG XP_011507632.1:p.Thr1332Lys
XM_011509331.1:c.3746_3747delinsAG XP_011507633.1:p.Thr1249Lys
XM_005244999.3:c.4103_4104delinsAG XP_005245056.1:p.Thr1368Lys
XM_005245000.4:c.4103_4104delinsAG XP_005245057.1:p.Thr1368Lys
XM_005245001.2:c.4103_4104delinsAG XP_005245058.1:p.Thr1368Lys
XM_005245005.2:c.3944_3945delinsAG XP_005245062.1:p.Thr1315Lys
XM_005245006.5:c.3944_3945delinsAG XP_005245063.1:p.Thr1315Lys
XM_017000744.1:c.4124_4125delinsAG XP_016856233.1:p.Thr1375Lys
XM_017000745.2:c.4076_4077delinsAG XP_016856234.1:p.Thr1359Lys
XM_017000746.1:c.4076_4077delinsAG XP_016856235.1:p.Thr1359Lys
XM_017000748.1:c.3944_3945delinsAG XP_016856237.1:p.Thr1315Lys
XM_017000749.1:c.3944_3945delinsAG XP_016856238.1:p.Thr1315Lys
XM_024454305.1:c.3977_3978delinsAG XP_024310073.1:p.Thr1326Lys
XM_024454306.1:c.2903_2904delinsAG XP_024310074.1:p.Thr968Lys
XR_002959801.1:n.3958_3959delinsAG
NM_015100.4:c.4103_4104delinsAG MANE Select NP_055915.2:p.Thr1368Lys
NM_001194937.2:c.4076_4077delinsAG NP_001181866.1:p.Thr1359Lys
NM_001194938.2:c.3917_3918delinsAG NP_001181867.1:p.Thr1306Lys
NM_145796.4:c.3818_3819delinsAG NP_665739.3:p.Thr1273Lys