Canonical Allele Identifier: CA2580061025

Gene: POGZ

Linked Data

• ClinVar Variation Id: 1804028
• ClinVar RCV Id: RCV002468766

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406209_151406216del , CM000663.2:g.151406209_151406216del	GRCh38
NC_000001.10:g.151378685_151378692del , CM000663.1:g.151378685_151378692del	GRCh37
NC_000001.9:g.149645309_149645316del	NCBI36
NG_046601.1:g.58250_58257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2867_2874del	ENSP00000518163.1:p.Leu956ArgfsTer2
ENST00000392723.6:c.2660_2667del	ENSP00000376484.1:p.Leu887ArgfsTer2
ENST00000439756.2:c.2819_2826del	ENSP00000390156.2:p.Leu940ArgfsTer2
ENST00000703168.1:c.2840_2847del	ENSP00000515214.1:p.Leu947ArgfsTer2
ENST00000271715.7:c.2819_2826del MANE Select	ENSP00000271715.2:p.Leu940ArgfsTer2
ENST00000271715.6:c.2819_2826del	ENSP00000271715.2:p.Leu940ArgfsTer2
ENST00000358476.7:n.2967_2974del
ENST00000368863.6:c.2534_2541del	ENSP00000357856.2:p.Leu845ArgfsTer2
ENST00000392723.5:c.2660_2667del	ENSP00000376484.1:p.Leu887ArgfsTer2
ENST00000409503.5:c.2792_2799del	ENSP00000386836.1:p.Leu931ArgfsTer2
ENST00000491586.5:c.2687_2694del	ENSP00000418408.1:p.Leu896ArgfsTer2
ENST00000531094.5:c.2633_2640del	ENSP00000431259.1:p.Leu878ArgfsTer2
NM_001194937.1:c.2792_2799del	NP_001181866.1:p.Leu931ArgfsTer2
NM_001194938.1:c.2633_2640del	NP_001181867.1:p.Leu878ArgfsTer2
NM_015100.3:c.2819_2826del	NP_055915.2:p.Leu940ArgfsTer2
NM_145796.3:c.2534_2541del	NP_665739.3:p.Leu845ArgfsTer2
NM_207171.2:c.2660_2667del	NP_997054.1:p.Leu887ArgfsTer2
XM_005244999.1:c.2819_2826del	XP_005245056.1:p.Leu940ArgfsTer2
XM_005245000.3:c.2819_2826del	XP_005245057.1:p.Leu940ArgfsTer2
XM_005245001.1:c.2819_2826del	XP_005245058.1:p.Leu940ArgfsTer2
XM_005245005.1:c.2660_2667del	XP_005245062.1:p.Leu887ArgfsTer2
XM_005245006.3:c.2660_2667del	XP_005245063.1:p.Leu887ArgfsTer2
XM_011509330.1:c.2711_2718del	XP_011507632.1:p.Leu904ArgfsTer2
XM_011509331.1:c.2462_2469del	XP_011507633.1:p.Leu821ArgfsTer2
XM_005244999.3:c.2819_2826del	XP_005245056.1:p.Leu940ArgfsTer2
XM_005245000.4:c.2819_2826del	XP_005245057.1:p.Leu940ArgfsTer2
XM_005245001.2:c.2819_2826del	XP_005245058.1:p.Leu940ArgfsTer2
XM_005245005.2:c.2660_2667del	XP_005245062.1:p.Leu887ArgfsTer2
XM_005245006.5:c.2660_2667del	XP_005245063.1:p.Leu887ArgfsTer2
XM_017000744.1:c.2840_2847del	XP_016856233.1:p.Leu947ArgfsTer2
XM_017000745.2:c.2792_2799del	XP_016856234.1:p.Leu931ArgfsTer2
XM_017000746.1:c.2792_2799del	XP_016856235.1:p.Leu931ArgfsTer2
XM_017000748.1:c.2660_2667del	XP_016856237.1:p.Leu887ArgfsTer2
XM_017000749.1:c.2660_2667del	XP_016856238.1:p.Leu887ArgfsTer2
XM_024454305.1:c.2693_2700del	XP_024310073.1:p.Leu898ArgfsTer2
XM_024454306.1:c.1619_1626del	XP_024310074.1:p.Leu540ArgfsTer2
XR_002959801.1:n.2674_2681del
NM_015100.4:c.2819_2826del MANE Select	NP_055915.2:p.Leu940ArgfsTer2
NM_001194937.2:c.2792_2799del	NP_001181866.1:p.Leu931ArgfsTer2
NM_001194938.2:c.2633_2640del	NP_001181867.1:p.Leu878ArgfsTer2
NM_145796.4:c.2534_2541del	NP_665739.3:p.Leu845ArgfsTer2