Canonical Allele Identifier: CA915941417

Gene: POGZ

Linked Data

• ClinVar Variation Id: 800774
• ClinVar RCV Id: RCV000984942
• dbSNP Id: rs1571340611

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408453_151408455delinsTTT , CM000663.2:g.151408453_151408455delinsTTT	GRCh38
NC_000001.10:g.151380929_151380931delinsTTT , CM000663.1:g.151380929_151380931delinsTTT	GRCh37
NC_000001.9:g.149647553_149647555delinsTTT	NCBI36
NG_046601.1:g.56011_56013delinsAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2236_2238delinsAAA	ENSP00000518163.1:p.Tyr746Lys
ENST00000392723.6:c.2029_2031delinsAAA	ENSP00000376484.1:p.Tyr677Lys
ENST00000439756.2:c.2188_2190delinsAAA	ENSP00000390156.2:p.Tyr730Lys
ENST00000703168.1:c.2209_2211delinsAAA	ENSP00000515214.1:p.Tyr737Lys
ENST00000271715.7:c.2188_2190delinsAAA MANE Select	ENSP00000271715.2:p.Tyr730Lys
ENST00000271715.6:c.2188_2190delinsAAA	ENSP00000271715.2:p.Tyr730Lys
ENST00000358476.7:n.2057_2059delinsAAA
ENST00000368863.6:c.1903_1905delinsAAA	ENSP00000357856.2:p.Tyr635Lys
ENST00000392723.5:c.2029_2031delinsAAA	ENSP00000376484.1:p.Tyr677Lys
ENST00000409503.5:c.2161_2163delinsAAA	ENSP00000386836.1:p.Tyr721Lys
ENST00000491586.5:c.2056_2058delinsAAA	ENSP00000418408.1:p.Tyr686Lys
ENST00000492528.1:n.99_101delinsAAA
ENST00000529669.1:c.388_390delinsAAA	ENSP00000432295.1:p.Tyr130Lys
ENST00000531094.5:c.2002_2004delinsAAA	ENSP00000431259.1:p.Tyr668Lys
NM_001194937.1:c.2161_2163delinsAAA	NP_001181866.1:p.Tyr721Lys
NM_001194938.1:c.2002_2004delinsAAA	NP_001181867.1:p.Tyr668Lys
NM_015100.3:c.2188_2190delinsAAA	NP_055915.2:p.Tyr730Lys
NM_145796.3:c.1903_1905delinsAAA	NP_665739.3:p.Tyr635Lys
NM_207171.2:c.2029_2031delinsAAA	NP_997054.1:p.Tyr677Lys
XM_005244999.1:c.2188_2190delinsAAA	XP_005245056.1:p.Tyr730Lys
XM_005245000.3:c.2188_2190delinsAAA	XP_005245057.1:p.Tyr730Lys
XM_005245001.1:c.2188_2190delinsAAA	XP_005245058.1:p.Tyr730Lys
XM_005245005.1:c.2029_2031delinsAAA	XP_005245062.1:p.Tyr677Lys
XM_005245006.3:c.2029_2031delinsAAA	XP_005245063.1:p.Tyr677Lys
XM_011509330.1:c.2080_2082delinsAAA	XP_011507632.1:p.Tyr694Lys
XM_011509331.1:c.1831_1833delinsAAA	XP_011507633.1:p.Tyr611Lys
XR_921760.1:n.2063-215_2063-213delinsAAA
XM_005244999.3:c.2188_2190delinsAAA	XP_005245056.1:p.Tyr730Lys
XM_005245000.4:c.2188_2190delinsAAA	XP_005245057.1:p.Tyr730Lys
XM_005245001.2:c.2188_2190delinsAAA	XP_005245058.1:p.Tyr730Lys
XM_005245005.2:c.2029_2031delinsAAA	XP_005245062.1:p.Tyr677Lys
XM_005245006.5:c.2029_2031delinsAAA	XP_005245063.1:p.Tyr677Lys
XM_017000744.1:c.2209_2211delinsAAA	XP_016856233.1:p.Tyr737Lys
XM_017000745.2:c.2161_2163delinsAAA	XP_016856234.1:p.Tyr721Lys
XM_017000746.1:c.2161_2163delinsAAA	XP_016856235.1:p.Tyr721Lys
XM_017000748.1:c.2029_2031delinsAAA	XP_016856237.1:p.Tyr677Lys
XM_017000749.1:c.2029_2031delinsAAA	XP_016856238.1:p.Tyr677Lys
XM_024454305.1:c.2062_2064delinsAAA	XP_024310073.1:p.Tyr688Lys
XM_024454306.1:c.988_990delinsAAA	XP_024310074.1:p.Tyr330Lys
XR_002959801.1:n.2090-215_2090-213delinsAAA
NM_015100.4:c.2188_2190delinsAAA MANE Select	NP_055915.2:p.Tyr730Lys
NM_001194937.2:c.2161_2163delinsAAA	NP_001181866.1:p.Tyr721Lys
NM_001194938.2:c.2002_2004delinsAAA	NP_001181867.1:p.Tyr668Lys
NM_145796.4:c.1903_1905delinsAAA	NP_665739.3:p.Tyr635Lys