Canonical Allele Identifier: CA29590261

Gene: POGZ

Linked Data

• ClinVar Variation Id: 1273445
• ClinVar RCV Id: RCV001681908
• dbSNP Id: rs60227751
• gnomAD v2: 1-151403380-CTTTATTTTAT-C
• gnomAD v3: 1-151430904-CTTTATTTTAT-C
• gnomAD v4: 1-151430904-CTTTATTTTAT-C
• MyVariant Identifiers: chr1:g.151403386_151403395del (hg19) ; chr1:g.151403381_151403390del (hg19) ; chr1:g.151430910_151430919del (hg38) ; chr1:g.151430905_151430914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430942_151430951del , CM000663.2:g.151430942_151430951del	GRCh38
NC_000001.10:g.151403418_151403427del , CM000663.1:g.151403418_151403427del	GRCh37
NC_000001.9:g.149670042_149670051del	NCBI36
NG_046601.1:g.33552_33561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.332-73_332-64del	ENSP00000518163.1:n.332-73_332-64del
ENST00000392723.6:c.125-73_125-64del	ENSP00000376484.1:n.125-73_125-64del
ENST00000439756.2:c.284-73_284-64del	ENSP00000390156.2:n.284-73_284-64del
ENST00000703168.1:c.305-73_305-64del	ENSP00000515214.1:n.305-73_305-64del
ENST00000703169.1:c.284-73_284-64del	ENSP00000515215.1:n.284-73_284-64del
ENST00000271715.7:c.284-73_284-64del MANE Select	ENSP00000271715.2:n.284-73_284-64del
ENST00000271715.6:c.284-73_284-64del	ENSP00000271715.2:n.284-73_284-64del
ENST00000358476.7:n.153-73_153-64del
ENST00000368863.6:c.284-2501_284-2492del	ENSP00000357856.2:n.284-2501_284-2492del
ENST00000392723.5:c.125-73_125-64del	ENSP00000376484.1:n.125-73_125-64del
ENST00000409503.5:c.284-73_284-64del	ENSP00000386836.1:n.284-73_284-64del
ENST00000450842.1:c.125-73_125-64del	ENSP00000395332.1:n.125-73_125-64del
ENST00000467287.5:n.162-73_162-64del
ENST00000485040.5:n.313-73_313-64del
ENST00000491586.5:c.125-73_125-64del	ENSP00000418408.1:n.125-73_125-64del
ENST00000531094.5:c.125-73_125-64del	ENSP00000431259.1:n.125-73_125-64del
ENST00000533351.5:c.284-73_284-64del	ENSP00000433637.1:n.284-73_284-64del
ENST00000533461.5:c.284-73_284-64del	ENSP00000433934.1:n.284-73_284-64del
NM_001194937.1:c.284-73_284-64del	NP_001181866.1:n.284-73_284-64del
NM_001194938.1:c.125-73_125-64del	NP_001181867.1:n.125-73_125-64del
NM_015100.3:c.284-73_284-64del	NP_055915.2:n.284-73_284-64del
NM_145796.3:c.284-2501_284-2492del	NP_665739.3:n.284-2501_284-2492del
NM_207171.2:c.125-73_125-64del	NP_997054.1:n.125-73_125-64del
XM_005244999.1:c.284-73_284-64del	XP_005245056.1:n.284-73_284-64del
XM_005245000.3:c.284-73_284-64del	XP_005245057.1:n.284-73_284-64del
XM_005245001.1:c.284-73_284-64del	XP_005245058.1:n.284-73_284-64del
XM_005245005.1:c.125-73_125-64del	XP_005245062.1:n.125-73_125-64del
XM_005245006.3:c.125-73_125-64del	XP_005245063.1:n.125-73_125-64del
XM_011509330.1:c.176-73_176-64del	XP_011507632.1:n.176-73_176-64del
XM_011509331.1:c.-74-73_-74-64del	XP_011507633.1:n.-74-73_-74-64del
XR_921760.1:n.285-73_285-64del
XM_005244999.3:c.284-73_284-64del	XP_005245056.1:n.284-73_284-64del
XM_005245000.4:c.284-73_284-64del	XP_005245057.1:n.284-73_284-64del
XM_005245001.2:c.284-73_284-64del	XP_005245058.1:n.284-73_284-64del
XM_005245005.2:c.125-73_125-64del	XP_005245062.1:n.125-73_125-64del
XM_005245006.5:c.125-73_125-64del	XP_005245063.1:n.125-73_125-64del
XM_017000744.1:c.305-73_305-64del	XP_016856233.1:n.305-73_305-64del
XM_017000745.2:c.284-73_284-64del	XP_016856234.1:n.284-73_284-64del
XM_017000746.1:c.284-73_284-64del	XP_016856235.1:n.284-73_284-64del
XM_017000748.1:c.125-73_125-64del	XP_016856237.1:n.125-73_125-64del
XM_017000749.1:c.125-73_125-64del	XP_016856238.1:n.125-73_125-64del
XM_024454305.1:c.305-73_305-64del	XP_024310073.1:n.305-73_305-64del
XM_024454306.1:c.-1999-73_-1999-64del	XP_024310074.1:n.-1999-73_-1999-64del
XR_002959801.1:n.312-73_312-64del
NM_015100.4:c.284-73_284-64del MANE Select	NP_055915.2:n.284-73_284-64del
NM_001194937.2:c.284-73_284-64del	NP_001181866.1:n.284-73_284-64del
NM_001194938.2:c.125-73_125-64del	NP_001181867.1:n.125-73_125-64del
NM_145796.4:c.284-2501_284-2492del	NP_665739.3:n.284-2501_284-2492del