Canonical Allele Identifier: CA915941413

Gene: POGZ

Linked Data

• ClinVar Variation Id: 817836
• ClinVar RCV Id: RCV001009057
• dbSNP Id: rs1571326825

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406254dup , CM000663.2:g.151406254dup	GRCh38
NC_000001.10:g.151378730dup , CM000663.1:g.151378730dup	GRCh37
NC_000001.9:g.149645354dup	NCBI36
NG_046601.1:g.58212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2829dup	ENSP00000518163.1:p.Ala944SerfsTer16
ENST00000392723.6:c.2622dup	ENSP00000376484.1:p.Ala875SerfsTer16
ENST00000439756.2:c.2781dup	ENSP00000390156.2:p.Ala928SerfsTer16
ENST00000703168.1:c.2802dup	ENSP00000515214.1:p.Ala935SerfsTer16
ENST00000271715.7:c.2781dup MANE Select	ENSP00000271715.2:p.Ala928SerfsTer16
ENST00000271715.6:c.2781dup	ENSP00000271715.2:p.Ala928SerfsTer16
ENST00000358476.7:n.2929dup
ENST00000368863.6:c.2496dup	ENSP00000357856.2:p.Ala833SerfsTer16
ENST00000392723.5:c.2622dup	ENSP00000376484.1:p.Ala875SerfsTer16
ENST00000409503.5:c.2754dup	ENSP00000386836.1:p.Ala919SerfsTer16
ENST00000491586.5:c.2649dup	ENSP00000418408.1:p.Ala884SerfsTer16
ENST00000531094.5:c.2595dup	ENSP00000431259.1:p.Ala866SerfsTer16
NM_001194937.1:c.2754dup	NP_001181866.1:p.Ala919SerfsTer16
NM_001194938.1:c.2595dup	NP_001181867.1:p.Ala866SerfsTer16
NM_015100.3:c.2781dup	NP_055915.2:p.Ala928SerfsTer16
NM_145796.3:c.2496dup	NP_665739.3:p.Ala833SerfsTer16
NM_207171.2:c.2622dup	NP_997054.1:p.Ala875SerfsTer16
XM_005244999.1:c.2781dup	XP_005245056.1:p.Ala928SerfsTer16
XM_005245000.3:c.2781dup	XP_005245057.1:p.Ala928SerfsTer16
XM_005245001.1:c.2781dup	XP_005245058.1:p.Ala928SerfsTer16
XM_005245005.1:c.2622dup	XP_005245062.1:p.Ala875SerfsTer16
XM_005245006.3:c.2622dup	XP_005245063.1:p.Ala875SerfsTer16
XM_011509330.1:c.2673dup	XP_011507632.1:p.Ala892SerfsTer16
XM_011509331.1:c.2424dup	XP_011507633.1:p.Ala809SerfsTer16
XM_005244999.3:c.2781dup	XP_005245056.1:p.Ala928SerfsTer16
XM_005245000.4:c.2781dup	XP_005245057.1:p.Ala928SerfsTer16
XM_005245001.2:c.2781dup	XP_005245058.1:p.Ala928SerfsTer16
XM_005245005.2:c.2622dup	XP_005245062.1:p.Ala875SerfsTer16
XM_005245006.5:c.2622dup	XP_005245063.1:p.Ala875SerfsTer16
XM_017000744.1:c.2802dup	XP_016856233.1:p.Ala935SerfsTer16
XM_017000745.2:c.2754dup	XP_016856234.1:p.Ala919SerfsTer16
XM_017000746.1:c.2754dup	XP_016856235.1:p.Ala919SerfsTer16
XM_017000748.1:c.2622dup	XP_016856237.1:p.Ala875SerfsTer16
XM_017000749.1:c.2622dup	XP_016856238.1:p.Ala875SerfsTer16
XM_024454305.1:c.2655dup	XP_024310073.1:p.Ala886SerfsTer16
XM_024454306.1:c.1581dup	XP_024310074.1:p.Ala528SerfsTer16
XR_002959801.1:n.2636dup
NM_015100.4:c.2781dup MANE Select	NP_055915.2:p.Ala928SerfsTer16
NM_001194937.2:c.2754dup	NP_001181866.1:p.Ala919SerfsTer16
NM_001194938.2:c.2595dup	NP_001181867.1:p.Ala866SerfsTer16
NM_145796.4:c.2496dup	NP_665739.3:p.Ala833SerfsTer16