Canonical Allele Identifier: CA16616969
Gene: POGZ HGNC NCBI

Linked Data

dbSNP Id: rs1064794134

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406112_151406113del , CM000663.2:g.151406112_151406113del GRCh38
NC_000001.10:g.151378588_151378589del , CM000663.1:g.151378588_151378589del GRCh37
NC_000001.9:g.149645212_149645213del NCBI36
NG_046601.1:g.58355_58356del

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.2972_2973del ENSP00000518163.1:p.Val991GlufsTer19
ENST00000392723.6:c.2765_2766del ENSP00000376484.1:p.Val922GlufsTer19
ENST00000439756.2:c.2924_2925del ENSP00000390156.2:p.Val975GlufsTer19
ENST00000703168.1:c.2945_2946del ENSP00000515214.1:p.Val982GlufsTer19
ENST00000271715.7:c.2924_2925del MANE Select ENSP00000271715.2:p.Val975GlufsTer19
ENST00000271715.6:c.2924_2925del ENSP00000271715.2:p.Val975GlufsTer19
ENST00000358476.7:n.3072_3073del
ENST00000368863.6:c.2639_2640del ENSP00000357856.2:p.Val880GlufsTer19
ENST00000392723.5:c.2765_2766del ENSP00000376484.1:p.Val922GlufsTer19
ENST00000409503.5:c.2897_2898del ENSP00000386836.1:p.Val966GlufsTer19
ENST00000491586.5:c.2792_2793del ENSP00000418408.1:p.Val931GlufsTer19
ENST00000531094.5:c.2738_2739del ENSP00000431259.1:p.Val913GlufsTer19
NM_001194937.1:c.2897_2898del NP_001181866.1:p.Val966GlufsTer19
NM_001194938.1:c.2738_2739del NP_001181867.1:p.Val913GlufsTer19
NM_015100.3:c.2924_2925del NP_055915.2:p.Val975GlufsTer19
NM_145796.3:c.2639_2640del NP_665739.3:p.Val880GlufsTer19
NM_207171.2:c.2765_2766del NP_997054.1:p.Val922GlufsTer19
XM_005244999.1:c.2924_2925del XP_005245056.1:p.Val975GlufsTer19
XM_005245000.3:c.2924_2925del XP_005245057.1:p.Val975GlufsTer19
XM_005245001.1:c.2924_2925del XP_005245058.1:p.Val975GlufsTer19
XM_005245005.1:c.2765_2766del XP_005245062.1:p.Val922GlufsTer19
XM_005245006.3:c.2765_2766del XP_005245063.1:p.Val922GlufsTer19
XM_011509330.1:c.2816_2817del XP_011507632.1:p.Val939GlufsTer19
XM_011509331.1:c.2567_2568del XP_011507633.1:p.Val856GlufsTer19
XM_005244999.3:c.2924_2925del XP_005245056.1:p.Val975GlufsTer19
XM_005245000.4:c.2924_2925del XP_005245057.1:p.Val975GlufsTer19
XM_005245001.2:c.2924_2925del XP_005245058.1:p.Val975GlufsTer19
XM_005245005.2:c.2765_2766del XP_005245062.1:p.Val922GlufsTer19
XM_005245006.5:c.2765_2766del XP_005245063.1:p.Val922GlufsTer19
XM_017000744.1:c.2945_2946del XP_016856233.1:p.Val982GlufsTer19
XM_017000745.2:c.2897_2898del XP_016856234.1:p.Val966GlufsTer19
XM_017000746.1:c.2897_2898del XP_016856235.1:p.Val966GlufsTer19
XM_017000748.1:c.2765_2766del XP_016856237.1:p.Val922GlufsTer19
XM_017000749.1:c.2765_2766del XP_016856238.1:p.Val922GlufsTer19
XM_024454305.1:c.2798_2799del XP_024310073.1:p.Val933GlufsTer19
XM_024454306.1:c.1724_1725del XP_024310074.1:p.Val575GlufsTer19
XR_002959801.1:n.2779_2780del
NM_015100.4:c.2924_2925del MANE Select NP_055915.2:p.Val975GlufsTer19
NM_001194937.2:c.2897_2898del NP_001181866.1:p.Val966GlufsTer19
NM_001194938.2:c.2738_2739del NP_001181867.1:p.Val913GlufsTer19
NM_145796.4:c.2639_2640del NP_665739.3:p.Val880GlufsTer19