Canonical Allele Identifier: CA658795515

Gene: POGZ

Linked Data

• ClinVar Variation Id: 523510
• ClinVar RCV Id: RCV000626925
• dbSNP Id: rs1553212868
• MyVariant Identifiers: chr1:g.151378740del (hg19) ; chr1:g.151406264del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406266del , CM000663.2:g.151406266del	GRCh38
NC_000001.10:g.151378742del , CM000663.1:g.151378742del	GRCh37
NC_000001.9:g.149645366del	NCBI36
NG_046601.1:g.58202del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2819del	ENSP00000518163.1:p.Pro940ArgfsTer4
ENST00000392723.6:c.2612del	ENSP00000376484.1:p.Pro871ArgfsTer4
ENST00000439756.2:c.2771del	ENSP00000390156.2:p.Pro924ArgfsTer4
ENST00000703168.1:c.2792del	ENSP00000515214.1:p.Pro931ArgfsTer4
ENST00000271715.7:c.2771del MANE Select	ENSP00000271715.2:p.Pro924ArgfsTer4
ENST00000271715.6:c.2771del	ENSP00000271715.2:p.Pro924ArgfsTer4
ENST00000358476.7:n.2919del
ENST00000368863.6:c.2486del	ENSP00000357856.2:p.Pro829ArgfsTer4
ENST00000392723.5:c.2612del	ENSP00000376484.1:p.Pro871ArgfsTer4
ENST00000409503.5:c.2744del	ENSP00000386836.1:p.Pro915ArgfsTer4
ENST00000491586.5:c.2639del	ENSP00000418408.1:p.Pro880ArgfsTer4
ENST00000531094.5:c.2585del	ENSP00000431259.1:p.Pro862ArgfsTer4
NM_001194937.1:c.2744del	NP_001181866.1:p.Pro915ArgfsTer4
NM_001194938.1:c.2585del	NP_001181867.1:p.Pro862ArgfsTer4
NM_015100.3:c.2771del	NP_055915.2:p.Pro924ArgfsTer4
NM_145796.3:c.2486del	NP_665739.3:p.Pro829ArgfsTer4
NM_207171.2:c.2612del	NP_997054.1:p.Pro871ArgfsTer4
XM_005244999.1:c.2771del	XP_005245056.1:p.Pro924ArgfsTer4
XM_005245000.3:c.2771del	XP_005245057.1:p.Pro924ArgfsTer4
XM_005245001.1:c.2771del	XP_005245058.1:p.Pro924ArgfsTer4
XM_005245005.1:c.2612del	XP_005245062.1:p.Pro871ArgfsTer4
XM_005245006.3:c.2612del	XP_005245063.1:p.Pro871ArgfsTer4
XM_011509330.1:c.2663del	XP_011507632.1:p.Pro888ArgfsTer4
XM_011509331.1:c.2414del	XP_011507633.1:p.Pro805ArgfsTer4
XM_005244999.3:c.2771del	XP_005245056.1:p.Pro924ArgfsTer4
XM_005245000.4:c.2771del	XP_005245057.1:p.Pro924ArgfsTer4
XM_005245001.2:c.2771del	XP_005245058.1:p.Pro924ArgfsTer4
XM_005245005.2:c.2612del	XP_005245062.1:p.Pro871ArgfsTer4
XM_005245006.5:c.2612del	XP_005245063.1:p.Pro871ArgfsTer4
XM_017000744.1:c.2792del	XP_016856233.1:p.Pro931ArgfsTer4
XM_017000745.2:c.2744del	XP_016856234.1:p.Pro915ArgfsTer4
XM_017000746.1:c.2744del	XP_016856235.1:p.Pro915ArgfsTer4
XM_017000748.1:c.2612del	XP_016856237.1:p.Pro871ArgfsTer4
XM_017000749.1:c.2612del	XP_016856238.1:p.Pro871ArgfsTer4
XM_024454305.1:c.2645del	XP_024310073.1:p.Pro882ArgfsTer4
XM_024454306.1:c.1571del	XP_024310074.1:p.Pro524ArgfsTer4
XR_002959801.1:n.2626del
NM_015100.4:c.2771del MANE Select	NP_055915.2:p.Pro924ArgfsTer4
NM_001194937.2:c.2744del	NP_001181866.1:p.Pro915ArgfsTer4
NM_001194938.2:c.2585del	NP_001181867.1:p.Pro862ArgfsTer4
NM_145796.4:c.2486del	NP_665739.3:p.Pro829ArgfsTer4