Canonical Allele Identifier: CA915941412

Gene: POGZ

Linked Data

• ClinVar Variation Id: 666305
• ClinVar RCV Id: RCV000824841
• dbSNP Id: rs1571326296

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406200del , CM000663.2:g.151406200del	GRCh38
NC_000001.10:g.151378676del , CM000663.1:g.151378676del	GRCh37
NC_000001.9:g.149645300del	NCBI36
NG_046601.1:g.58267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2884del	ENSP00000518163.1:p.Asp962MetfsTer12
ENST00000392723.6:c.2677del	ENSP00000376484.1:p.Asp893MetfsTer12
ENST00000439756.2:c.2836del	ENSP00000390156.2:p.Asp946MetfsTer12
ENST00000703168.1:c.2857del	ENSP00000515214.1:p.Asp953MetfsTer12
ENST00000271715.7:c.2836del MANE Select	ENSP00000271715.2:p.Asp946MetfsTer12
ENST00000271715.6:c.2836del	ENSP00000271715.2:p.Asp946MetfsTer12
ENST00000358476.7:n.2984del
ENST00000368863.6:c.2551del	ENSP00000357856.2:p.Asp851MetfsTer12
ENST00000392723.5:c.2677del	ENSP00000376484.1:p.Asp893MetfsTer12
ENST00000409503.5:c.2809del	ENSP00000386836.1:p.Asp937MetfsTer12
ENST00000491586.5:c.2704del	ENSP00000418408.1:p.Asp902MetfsTer12
ENST00000531094.5:c.2650del	ENSP00000431259.1:p.Asp884MetfsTer12
NM_001194937.1:c.2809del	NP_001181866.1:p.Asp937MetfsTer12
NM_001194938.1:c.2650del	NP_001181867.1:p.Asp884MetfsTer12
NM_015100.3:c.2836del	NP_055915.2:p.Asp946MetfsTer12
NM_145796.3:c.2551del	NP_665739.3:p.Asp851MetfsTer12
NM_207171.2:c.2677del	NP_997054.1:p.Asp893MetfsTer12
XM_005244999.1:c.2836del	XP_005245056.1:p.Asp946MetfsTer12
XM_005245000.3:c.2836del	XP_005245057.1:p.Asp946MetfsTer12
XM_005245001.1:c.2836del	XP_005245058.1:p.Asp946MetfsTer12
XM_005245005.1:c.2677del	XP_005245062.1:p.Asp893MetfsTer12
XM_005245006.3:c.2677del	XP_005245063.1:p.Asp893MetfsTer12
XM_011509330.1:c.2728del	XP_011507632.1:p.Asp910MetfsTer12
XM_011509331.1:c.2479del	XP_011507633.1:p.Asp827MetfsTer12
XM_005244999.3:c.2836del	XP_005245056.1:p.Asp946MetfsTer12
XM_005245000.4:c.2836del	XP_005245057.1:p.Asp946MetfsTer12
XM_005245001.2:c.2836del	XP_005245058.1:p.Asp946MetfsTer12
XM_005245005.2:c.2677del	XP_005245062.1:p.Asp893MetfsTer12
XM_005245006.5:c.2677del	XP_005245063.1:p.Asp893MetfsTer12
XM_017000744.1:c.2857del	XP_016856233.1:p.Asp953MetfsTer12
XM_017000745.2:c.2809del	XP_016856234.1:p.Asp937MetfsTer12
XM_017000746.1:c.2809del	XP_016856235.1:p.Asp937MetfsTer12
XM_017000748.1:c.2677del	XP_016856237.1:p.Asp893MetfsTer12
XM_017000749.1:c.2677del	XP_016856238.1:p.Asp893MetfsTer12
XM_024454305.1:c.2710del	XP_024310073.1:p.Asp904MetfsTer12
XM_024454306.1:c.1636del	XP_024310074.1:p.Asp546MetfsTer12
XR_002959801.1:n.2691del
NM_015100.4:c.2836del MANE Select	NP_055915.2:p.Asp946MetfsTer12
NM_001194937.2:c.2809del	NP_001181866.1:p.Asp937MetfsTer12
NM_001194938.2:c.2650del	NP_001181867.1:p.Asp884MetfsTer12
NM_145796.4:c.2551del	NP_665739.3:p.Asp851MetfsTer12