Canonical Allele Identifier: CA658821141

Gene: POGZ

Linked Data

• ClinVar Variation Id: 559853
• ClinVar RCV Id: RCV000677635
• dbSNP Id: rs1553213060
• MyVariant Identifiers: chr1:g.151378864_151378865del (hg19) ; chr1:g.151406388_151406389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406389_151406390del , CM000663.2:g.151406389_151406390del	GRCh38
NC_000001.10:g.151378865_151378866del , CM000663.1:g.151378865_151378866del	GRCh37
NC_000001.9:g.149645489_149645490del	NCBI36
NG_046601.1:g.58077_58078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2694_2695del	ENSP00000518163.1:p.Asn898LysfsTer14
ENST00000392723.6:c.2487_2488del	ENSP00000376484.1:p.Asn829LysfsTer14
ENST00000439756.2:c.2646_2647del	ENSP00000390156.2:p.Asn882LysfsTer14
ENST00000703168.1:c.2667_2668del	ENSP00000515214.1:p.Asn889LysfsTer14
ENST00000271715.7:c.2646_2647del MANE Select	ENSP00000271715.2:p.Asn882LysfsTer14
ENST00000271715.6:c.2646_2647del	ENSP00000271715.2:p.Asn882LysfsTer14
ENST00000358476.7:n.2794_2795del
ENST00000368863.6:c.2361_2362del	ENSP00000357856.2:p.Asn787LysfsTer14
ENST00000392723.5:c.2487_2488del	ENSP00000376484.1:p.Asn829LysfsTer14
ENST00000409503.5:c.2619_2620del	ENSP00000386836.1:p.Asn873LysfsTer14
ENST00000491586.5:c.2514_2515del	ENSP00000418408.1:p.Asn838LysfsTer14
ENST00000529669.1:c.846_847del	ENSP00000432295.1:p.Asn282LysfsTer14
ENST00000531094.5:c.2460_2461del	ENSP00000431259.1:p.Asn820LysfsTer14
NM_001194937.1:c.2619_2620del	NP_001181866.1:p.Asn873LysfsTer14
NM_001194938.1:c.2460_2461del	NP_001181867.1:p.Asn820LysfsTer14
NM_015100.3:c.2646_2647del	NP_055915.2:p.Asn882LysfsTer14
NM_145796.3:c.2361_2362del	NP_665739.3:p.Asn787LysfsTer14
NM_207171.2:c.2487_2488del	NP_997054.1:p.Asn829LysfsTer14
XM_005244999.1:c.2646_2647del	XP_005245056.1:p.Asn882LysfsTer14
XM_005245000.3:c.2646_2647del	XP_005245057.1:p.Asn882LysfsTer14
XM_005245001.1:c.2646_2647del	XP_005245058.1:p.Asn882LysfsTer14
XM_005245005.1:c.2487_2488del	XP_005245062.1:p.Asn829LysfsTer14
XM_005245006.3:c.2487_2488del	XP_005245063.1:p.Asn829LysfsTer14
XM_011509330.1:c.2538_2539del	XP_011507632.1:p.Asn846LysfsTer14
XM_011509331.1:c.2289_2290del	XP_011507633.1:p.Asn763LysfsTer14
XM_005244999.3:c.2646_2647del	XP_005245056.1:p.Asn882LysfsTer14
XM_005245000.4:c.2646_2647del	XP_005245057.1:p.Asn882LysfsTer14
XM_005245001.2:c.2646_2647del	XP_005245058.1:p.Asn882LysfsTer14
XM_005245005.2:c.2487_2488del	XP_005245062.1:p.Asn829LysfsTer14
XM_005245006.5:c.2487_2488del	XP_005245063.1:p.Asn829LysfsTer14
XM_017000744.1:c.2667_2668del	XP_016856233.1:p.Asn889LysfsTer14
XM_017000745.2:c.2619_2620del	XP_016856234.1:p.Asn873LysfsTer14
XM_017000746.1:c.2619_2620del	XP_016856235.1:p.Asn873LysfsTer14
XM_017000748.1:c.2487_2488del	XP_016856237.1:p.Asn829LysfsTer14
XM_017000749.1:c.2487_2488del	XP_016856238.1:p.Asn829LysfsTer14
XM_024454305.1:c.2520_2521del	XP_024310073.1:p.Asn840LysfsTer14
XM_024454306.1:c.1446_1447del	XP_024310074.1:p.Asn482LysfsTer14
XR_002959801.1:n.2501_2502del
NM_015100.4:c.2646_2647del MANE Select	NP_055915.2:p.Asn882LysfsTer14
NM_001194937.2:c.2619_2620del	NP_001181866.1:p.Asn873LysfsTer14
NM_001194938.2:c.2460_2461del	NP_001181867.1:p.Asn820LysfsTer14
NM_145796.4:c.2361_2362del	NP_665739.3:p.Asn787LysfsTer14