Canonical Allele Identifier: CA658795514

Gene: POGZ

Linked Data

• ClinVar Variation Id: 497355
• ClinVar RCV Id: RCV000594961
• dbSNP Id: rs1553212757
• MyVariant Identifiers: chr1:g.151378681_151378694del (hg19) ; chr1:g.151406205_151406218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406208_151406221del , CM000663.2:g.151406208_151406221del	GRCh38
NC_000001.10:g.151378684_151378697del , CM000663.1:g.151378684_151378697del	GRCh37
NC_000001.9:g.149645308_149645321del	NCBI36
NG_046601.1:g.58248_58261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2865_2878del	ENSP00000518163.1:p.Cys955Ter
ENST00000392723.6:c.2658_2671del	ENSP00000376484.1:p.Cys886Ter
ENST00000439756.2:c.2817_2830del	ENSP00000390156.2:p.Cys939Ter
ENST00000703168.1:c.2838_2851del	ENSP00000515214.1:p.Cys946Ter
ENST00000271715.7:c.2817_2830del MANE Select	ENSP00000271715.2:p.Cys939Ter
ENST00000271715.6:c.2817_2830del	ENSP00000271715.2:p.Cys939Ter
ENST00000358476.7:n.2965_2978del
ENST00000368863.6:c.2532_2545del	ENSP00000357856.2:p.Cys844Ter
ENST00000392723.5:c.2658_2671del	ENSP00000376484.1:p.Cys886Ter
ENST00000409503.5:c.2790_2803del	ENSP00000386836.1:p.Cys930Ter
ENST00000491586.5:c.2685_2698del	ENSP00000418408.1:p.Cys895Ter
ENST00000531094.5:c.2631_2644del	ENSP00000431259.1:p.Cys877Ter
NM_001194937.1:c.2790_2803del	NP_001181866.1:p.Cys930Ter
NM_001194938.1:c.2631_2644del	NP_001181867.1:p.Cys877Ter
NM_015100.3:c.2817_2830del	NP_055915.2:p.Cys939Ter
NM_145796.3:c.2532_2545del	NP_665739.3:p.Cys844Ter
NM_207171.2:c.2658_2671del	NP_997054.1:p.Cys886Ter
XM_005244999.1:c.2817_2830del	XP_005245056.1:p.Cys939Ter
XM_005245000.3:c.2817_2830del	XP_005245057.1:p.Cys939Ter
XM_005245001.1:c.2817_2830del	XP_005245058.1:p.Cys939Ter
XM_005245005.1:c.2658_2671del	XP_005245062.1:p.Cys886Ter
XM_005245006.3:c.2658_2671del	XP_005245063.1:p.Cys886Ter
XM_011509330.1:c.2709_2722del	XP_011507632.1:p.Cys903Ter
XM_011509331.1:c.2460_2473del	XP_011507633.1:p.Cys820Ter
XM_005244999.3:c.2817_2830del	XP_005245056.1:p.Cys939Ter
XM_005245000.4:c.2817_2830del	XP_005245057.1:p.Cys939Ter
XM_005245001.2:c.2817_2830del	XP_005245058.1:p.Cys939Ter
XM_005245005.2:c.2658_2671del	XP_005245062.1:p.Cys886Ter
XM_005245006.5:c.2658_2671del	XP_005245063.1:p.Cys886Ter
XM_017000744.1:c.2838_2851del	XP_016856233.1:p.Cys946Ter
XM_017000745.2:c.2790_2803del	XP_016856234.1:p.Cys930Ter
XM_017000746.1:c.2790_2803del	XP_016856235.1:p.Cys930Ter
XM_017000748.1:c.2658_2671del	XP_016856237.1:p.Cys886Ter
XM_017000749.1:c.2658_2671del	XP_016856238.1:p.Cys886Ter
XM_024454305.1:c.2691_2704del	XP_024310073.1:p.Cys897Ter
XM_024454306.1:c.1617_1630del	XP_024310074.1:p.Cys539Ter
XR_002959801.1:n.2672_2685del
NM_015100.4:c.2817_2830del MANE Select	NP_055915.2:p.Cys939Ter
NM_001194937.2:c.2790_2803del	NP_001181866.1:p.Cys930Ter
NM_001194938.2:c.2631_2644del	NP_001181867.1:p.Cys877Ter
NM_145796.4:c.2532_2545del	NP_665739.3:p.Cys844Ter