Canonical Allele Identifier: CA915941423

Gene: POGZ

Linked Data

• ClinVar Variation Id: 818061
• ClinVar RCV Id: RCV001009305
• dbSNP Id: rs1571470447

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430750dup , CM000663.2:g.151430750dup	GRCh38
NC_000001.10:g.151403226dup , CM000663.1:g.151403226dup	GRCh37
NC_000001.9:g.149669850dup	NCBI36
NG_046601.1:g.33716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.423dup	ENSP00000518163.1:p.Leu142IlefsTer15
ENST00000392723.6:c.216dup	ENSP00000376484.1:p.Leu73IlefsTer15
ENST00000439756.2:c.375dup	ENSP00000390156.2:p.Leu126IlefsTer15
ENST00000703168.1:c.396dup	ENSP00000515214.1:p.Leu133IlefsTer15
ENST00000703169.1:c.375dup	ENSP00000515215.1:p.Leu126IlefsTer15
ENST00000271715.7:c.375dup MANE Select	ENSP00000271715.2:p.Leu126IlefsTer15
ENST00000271715.6:c.375dup	ENSP00000271715.2:p.Leu126IlefsTer15
ENST00000358476.7:n.244dup
ENST00000368863.6:c.284-2337dup	ENSP00000357856.2:n.284-2337dup
ENST00000392723.5:c.216dup	ENSP00000376484.1:p.Leu73IlefsTer15
ENST00000409503.5:c.375dup	ENSP00000386836.1:p.Leu126IlefsTer15
ENST00000450842.1:c.216dup	ENSP00000395332.1:p.Leu73IlefsTer?
ENST00000467287.5:n.253dup
ENST00000485040.5:n.404dup
ENST00000491586.5:c.216dup	ENSP00000418408.1:p.Leu73IlefsTer15
ENST00000531094.5:c.216dup	ENSP00000431259.1:p.Leu73IlefsTer15
ENST00000533351.5:c.375dup	ENSP00000433637.1:p.Leu126IlefsTer15
ENST00000533461.5:c.375dup	ENSP00000433934.1:p.Leu126IlefsTer15
NM_001194937.1:c.375dup	NP_001181866.1:p.Leu126IlefsTer15
NM_001194938.1:c.216dup	NP_001181867.1:p.Leu73IlefsTer15
NM_015100.3:c.375dup	NP_055915.2:p.Leu126IlefsTer15
NM_145796.3:c.284-2337dup	NP_665739.3:n.284-2337dup
NM_207171.2:c.216dup	NP_997054.1:p.Leu73IlefsTer15
XM_005244999.1:c.375dup	XP_005245056.1:p.Leu126IlefsTer15
XM_005245000.3:c.375dup	XP_005245057.1:p.Leu126IlefsTer15
XM_005245001.1:c.375dup	XP_005245058.1:p.Leu126IlefsTer15
XM_005245005.1:c.216dup	XP_005245062.1:p.Leu73IlefsTer15
XM_005245006.3:c.216dup	XP_005245063.1:p.Leu73IlefsTer15
XM_011509330.1:c.267dup	XP_011507632.1:p.Leu90IlefsTer15
XM_011509331.1:c.18dup	XP_011507633.1:p.Leu7IlefsTer15
XR_921760.1:n.376dup
XM_005244999.3:c.375dup	XP_005245056.1:p.Leu126IlefsTer15
XM_005245000.4:c.375dup	XP_005245057.1:p.Leu126IlefsTer15
XM_005245001.2:c.375dup	XP_005245058.1:p.Leu126IlefsTer15
XM_005245005.2:c.216dup	XP_005245062.1:p.Leu73IlefsTer15
XM_005245006.5:c.216dup	XP_005245063.1:p.Leu73IlefsTer15
XM_017000744.1:c.396dup	XP_016856233.1:p.Leu133IlefsTer15
XM_017000745.2:c.375dup	XP_016856234.1:p.Leu126IlefsTer15
XM_017000746.1:c.375dup	XP_016856235.1:p.Leu126IlefsTer15
XM_017000748.1:c.216dup	XP_016856237.1:p.Leu73IlefsTer15
XM_017000749.1:c.216dup	XP_016856238.1:p.Leu73IlefsTer15
XM_024454305.1:c.396dup	XP_024310073.1:p.Leu133IlefsTer15
XM_024454306.1:c.-1908dup	XP_024310074.1:n.-1908dup
XR_002959801.1:n.403dup
NM_015100.4:c.375dup MANE Select	NP_055915.2:p.Leu126IlefsTer15
NM_001194937.2:c.375dup	NP_001181866.1:p.Leu126IlefsTer15
NM_001194938.2:c.216dup	NP_001181867.1:p.Leu73IlefsTer15
NM_145796.4:c.284-2337dup	NP_665739.3:n.284-2337dup