Canonical Allele Identifier: CA2479570665

Gene: POGZ

Linked Data

• ClinVar Variation Id: 1098578
• ClinVar RCV Id: RCV001420513 ; RCV001882532
• dbSNP Id: rs1653635853
• gnomAD v4: 1-151406435-TCATGCACTCGGTCACGAGTCTGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406441_151406464del , CM000663.2:g.151406441_151406464del	GRCh38
NC_000001.10:g.151378917_151378940del , CM000663.1:g.151378917_151378940del	GRCh37
NC_000001.9:g.149645541_149645564del	NCBI36
NG_046601.1:g.58007_58030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2624_2647del	ENSP00000518163.1:p.Gly875_His882del
ENST00000392723.6:c.2417_2440del	ENSP00000376484.1:p.Gly806_His813del
ENST00000439756.2:c.2576_2599del	ENSP00000390156.2:p.Gly859_His866del
ENST00000703168.1:c.2597_2620del	ENSP00000515214.1:p.Gly866_His873del
ENST00000271715.7:c.2576_2599del MANE Select	ENSP00000271715.2:p.Gly859_His866del
ENST00000271715.6:c.2576_2599del	ENSP00000271715.2:p.Gly859_His866del
ENST00000358476.7:n.2724_2747del
ENST00000368863.6:c.2291_2314del	ENSP00000357856.2:p.Gly764_His771del
ENST00000392723.5:c.2417_2440del	ENSP00000376484.1:p.Gly806_His813del
ENST00000409503.5:c.2549_2572del	ENSP00000386836.1:p.Gly850_His857del
ENST00000491586.5:c.2444_2467del	ENSP00000418408.1:p.Gly815_His822del
ENST00000529669.1:c.776_799del	ENSP00000432295.1:p.Gly259_His266del
ENST00000531094.5:c.2390_2413del	ENSP00000431259.1:p.Gly797_His804del
NM_001194937.1:c.2549_2572del	NP_001181866.1:p.Gly850_His857del
NM_001194938.1:c.2390_2413del	NP_001181867.1:p.Gly797_His804del
NM_015100.3:c.2576_2599del	NP_055915.2:p.Gly859_His866del
NM_145796.3:c.2291_2314del	NP_665739.3:p.Gly764_His771del
NM_207171.2:c.2417_2440del	NP_997054.1:p.Gly806_His813del
XM_005244999.1:c.2576_2599del	XP_005245056.1:p.Gly859_His866del
XM_005245000.3:c.2576_2599del	XP_005245057.1:p.Gly859_His866del
XM_005245001.1:c.2576_2599del	XP_005245058.1:p.Gly859_His866del
XM_005245005.1:c.2417_2440del	XP_005245062.1:p.Gly806_His813del
XM_005245006.3:c.2417_2440del	XP_005245063.1:p.Gly806_His813del
XM_011509330.1:c.2468_2491del	XP_011507632.1:p.Gly823_His830del
XM_011509331.1:c.2219_2242del	XP_011507633.1:p.Gly740_His747del
XR_921760.1:n.2404_2427del
XM_005244999.3:c.2576_2599del	XP_005245056.1:p.Gly859_His866del
XM_005245000.4:c.2576_2599del	XP_005245057.1:p.Gly859_His866del
XM_005245001.2:c.2576_2599del	XP_005245058.1:p.Gly859_His866del
XM_005245005.2:c.2417_2440del	XP_005245062.1:p.Gly806_His813del
XM_005245006.5:c.2417_2440del	XP_005245063.1:p.Gly806_His813del
XM_017000744.1:c.2597_2620del	XP_016856233.1:p.Gly866_His873del
XM_017000745.2:c.2549_2572del	XP_016856234.1:p.Gly850_His857del
XM_017000746.1:c.2549_2572del	XP_016856235.1:p.Gly850_His857del
XM_017000748.1:c.2417_2440del	XP_016856237.1:p.Gly806_His813del
XM_017000749.1:c.2417_2440del	XP_016856238.1:p.Gly806_His813del
XM_024454305.1:c.2450_2473del	XP_024310073.1:p.Gly817_His824del
XM_024454306.1:c.1376_1399del	XP_024310074.1:p.Gly459_His466del
XR_002959801.1:n.2431_2454del
NM_015100.4:c.2576_2599del MANE Select	NP_055915.2:p.Gly859_His866del
NM_001194937.2:c.2549_2572del	NP_001181866.1:p.Gly850_His857del
NM_001194938.2:c.2390_2413del	NP_001181867.1:p.Gly797_His804del
NM_145796.4:c.2291_2314del	NP_665739.3:p.Gly764_His771del