Canonical Allele Identifier: CA420909495

Gene: POGZ

Linked Data

• COSMIC: COSM1639500 ; COSM1639501
• MyVariant Identifiers: chr1:g.151378319del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151405848del , CM000663.2:g.151405848del	GRCh38
NC_000001.10:g.151378324del , CM000663.1:g.151378324del	GRCh37
NC_000001.9:g.149644948del	NCBI36
NG_046601.1:g.58623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.3240del	ENSP00000518163.1:p.Phe1081LeufsTer17
ENST00000392723.6:c.3033del	ENSP00000376484.1:p.Phe1012LeufsTer17
ENST00000439756.2:c.3192del	ENSP00000390156.2:p.Phe1065LeufsTer17
ENST00000703168.1:c.3213del	ENSP00000515214.1:p.Phe1072LeufsTer17
ENST00000271715.7:c.3192del MANE Select	ENSP00000271715.2:p.Phe1065LeufsTer17
ENST00000271715.6:c.3192del	ENSP00000271715.2:p.Phe1065LeufsTer17
ENST00000358476.7:n.3340del
ENST00000368863.6:c.2907del	ENSP00000357856.2:p.Phe970LeufsTer17
ENST00000392723.5:c.3033del	ENSP00000376484.1:p.Phe1012LeufsTer17
ENST00000409503.5:c.3165del	ENSP00000386836.1:p.Phe1056LeufsTer17
ENST00000491586.5:c.3060del	ENSP00000418408.1:p.Phe1021LeufsTer17
ENST00000531094.5:c.3006del	ENSP00000431259.1:p.Phe1003LeufsTer17
NM_001194937.1:c.3165del	NP_001181866.1:p.Phe1056LeufsTer17
NM_001194938.1:c.3006del	NP_001181867.1:p.Phe1003LeufsTer17
NM_015100.3:c.3192del	NP_055915.2:p.Phe1065LeufsTer17
NM_145796.3:c.2907del	NP_665739.3:p.Phe970LeufsTer17
NM_207171.2:c.3033del	NP_997054.1:p.Phe1012LeufsTer17
XM_005244999.1:c.3192del	XP_005245056.1:p.Phe1065LeufsTer17
XM_005245000.3:c.3192del	XP_005245057.1:p.Phe1065LeufsTer17
XM_005245001.1:c.3192del	XP_005245058.1:p.Phe1065LeufsTer17
XM_005245005.1:c.3033del	XP_005245062.1:p.Phe1012LeufsTer17
XM_005245006.3:c.3033del	XP_005245063.1:p.Phe1012LeufsTer17
XM_011509330.1:c.3084del	XP_011507632.1:p.Phe1029LeufsTer17
XM_011509331.1:c.2835del	XP_011507633.1:p.Phe946LeufsTer17
XM_005244999.3:c.3192del	XP_005245056.1:p.Phe1065LeufsTer17
XM_005245000.4:c.3192del	XP_005245057.1:p.Phe1065LeufsTer17
XM_005245001.2:c.3192del	XP_005245058.1:p.Phe1065LeufsTer17
XM_005245005.2:c.3033del	XP_005245062.1:p.Phe1012LeufsTer17
XM_005245006.5:c.3033del	XP_005245063.1:p.Phe1012LeufsTer17
XM_017000744.1:c.3213del	XP_016856233.1:p.Phe1072LeufsTer17
XM_017000745.2:c.3165del	XP_016856234.1:p.Phe1056LeufsTer17
XM_017000746.1:c.3165del	XP_016856235.1:p.Phe1056LeufsTer17
XM_017000748.1:c.3033del	XP_016856237.1:p.Phe1012LeufsTer17
XM_017000749.1:c.3033del	XP_016856238.1:p.Phe1012LeufsTer17
XM_024454305.1:c.3066del	XP_024310073.1:p.Phe1023LeufsTer17
XM_024454306.1:c.1992del	XP_024310074.1:p.Phe665LeufsTer17
XR_002959801.1:n.3047del
NM_015100.4:c.3192del MANE Select	NP_055915.2:p.Phe1065LeufsTer17
NM_001194937.2:c.3165del	NP_001181866.1:p.Phe1056LeufsTer17
NM_001194938.2:c.3006del	NP_001181867.1:p.Phe1003LeufsTer17
NM_145796.4:c.2907del	NP_665739.3:p.Phe970LeufsTer17