Canonical Allele Identifier: CA2647921110

Gene: POGZ

Linked Data

• gnomAD v4: 1-151408447-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408452del , CM000663.2:g.151408452del	GRCh38
NC_000001.10:g.151380928del , CM000663.1:g.151380928del	GRCh37
NC_000001.9:g.149647552del	NCBI36
NG_046601.1:g.56018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2243del	ENSP00000518163.1:p.Pro748LeufsTer14
ENST00000392723.6:c.2036del	ENSP00000376484.1:p.Pro679LeufsTer14
ENST00000439756.2:c.2195del	ENSP00000390156.2:p.Pro732LeufsTer14
ENST00000703168.1:c.2216del	ENSP00000515214.1:p.Pro739LeufsTer14
ENST00000271715.7:c.2195del MANE Select	ENSP00000271715.2:p.Pro732LeufsTer14
ENST00000271715.6:c.2195del	ENSP00000271715.2:p.Pro732LeufsTer14
ENST00000358476.7:n.2064del
ENST00000368863.6:c.1910del	ENSP00000357856.2:p.Pro637LeufsTer14
ENST00000392723.5:c.2036del	ENSP00000376484.1:p.Pro679LeufsTer14
ENST00000409503.5:c.2168del	ENSP00000386836.1:p.Pro723LeufsTer14
ENST00000491586.5:c.2063del	ENSP00000418408.1:p.Pro688LeufsTer14
ENST00000492528.1:n.106del
ENST00000529669.1:c.395del	ENSP00000432295.1:p.Pro132LeufsTer14
ENST00000531094.5:c.2009del	ENSP00000431259.1:p.Pro670LeufsTer14
NM_001194937.1:c.2168del	NP_001181866.1:p.Pro723LeufsTer14
NM_001194938.1:c.2009del	NP_001181867.1:p.Pro670LeufsTer14
NM_015100.3:c.2195del	NP_055915.2:p.Pro732LeufsTer14
NM_145796.3:c.1910del	NP_665739.3:p.Pro637LeufsTer14
NM_207171.2:c.2036del	NP_997054.1:p.Pro679LeufsTer14
XM_005244999.1:c.2195del	XP_005245056.1:p.Pro732LeufsTer14
XM_005245000.3:c.2195del	XP_005245057.1:p.Pro732LeufsTer14
XM_005245001.1:c.2195del	XP_005245058.1:p.Pro732LeufsTer14
XM_005245005.1:c.2036del	XP_005245062.1:p.Pro679LeufsTer14
XM_005245006.3:c.2036del	XP_005245063.1:p.Pro679LeufsTer14
XM_011509330.1:c.2087del	XP_011507632.1:p.Pro696LeufsTer14
XM_011509331.1:c.1838del	XP_011507633.1:p.Pro613LeufsTer14
XR_921760.1:n.2063-208del
XM_005244999.3:c.2195del	XP_005245056.1:p.Pro732LeufsTer14
XM_005245000.4:c.2195del	XP_005245057.1:p.Pro732LeufsTer14
XM_005245001.2:c.2195del	XP_005245058.1:p.Pro732LeufsTer14
XM_005245005.2:c.2036del	XP_005245062.1:p.Pro679LeufsTer14
XM_005245006.5:c.2036del	XP_005245063.1:p.Pro679LeufsTer14
XM_017000744.1:c.2216del	XP_016856233.1:p.Pro739LeufsTer14
XM_017000745.2:c.2168del	XP_016856234.1:p.Pro723LeufsTer14
XM_017000746.1:c.2168del	XP_016856235.1:p.Pro723LeufsTer14
XM_017000748.1:c.2036del	XP_016856237.1:p.Pro679LeufsTer14
XM_017000749.1:c.2036del	XP_016856238.1:p.Pro679LeufsTer14
XM_024454305.1:c.2069del	XP_024310073.1:p.Pro690LeufsTer14
XM_024454306.1:c.995del	XP_024310074.1:p.Pro332LeufsTer14
XR_002959801.1:n.2090-208del
NM_015100.4:c.2195del MANE Select	NP_055915.2:p.Pro732LeufsTer14
NM_001194937.2:c.2168del	NP_001181866.1:p.Pro723LeufsTer14
NM_001194938.2:c.2009del	NP_001181867.1:p.Pro670LeufsTer14
NM_145796.4:c.1910del	NP_665739.3:p.Pro637LeufsTer14