Canonical Allele Identifier: CA2580061029

Gene: POGZ

Linked Data

• ClinVar Variation Id: 1701110
• ClinVar RCV Id: RCV002276352
• dbSNP Id: rs2102150557

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406370_151406373delinsC , CM000663.2:g.151406370_151406373delinsC	GRCh38
NC_000001.10:g.151378846_151378849delinsC , CM000663.1:g.151378846_151378849delinsC	GRCh37
NC_000001.9:g.149645470_149645473delinsC	NCBI36
NG_046601.1:g.58093_58096delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2710_2713delinsG	ENSP00000518163.1:p.Lys904_Ser905delinsAla
ENST00000392723.6:c.2503_2506delinsG	ENSP00000376484.1:p.Lys835_Ser836delinsAla
ENST00000439756.2:c.2662_2665delinsG	ENSP00000390156.2:p.Lys888_Ser889delinsAla
ENST00000703168.1:c.2683_2686delinsG	ENSP00000515214.1:p.Lys895_Ser896delinsAla
ENST00000271715.7:c.2662_2665delinsG MANE Select	ENSP00000271715.2:p.Lys888_Ser889delinsAla
ENST00000271715.6:c.2662_2665delinsG	ENSP00000271715.2:p.Lys888_Ser889delinsAla
ENST00000358476.7:n.2810_2813delinsG
ENST00000368863.6:c.2377_2380delinsG	ENSP00000357856.2:p.Lys793_Ser794delinsAla
ENST00000392723.5:c.2503_2506delinsG	ENSP00000376484.1:p.Lys835_Ser836delinsAla
ENST00000409503.5:c.2635_2638delinsG	ENSP00000386836.1:p.Lys879_Ser880delinsAla
ENST00000491586.5:c.2530_2533delinsG	ENSP00000418408.1:p.Lys844_Ser845delinsAla
ENST00000529669.1:c.862_865delinsG	ENSP00000432295.1:p.Lys288_Ser289delinsAla
ENST00000531094.5:c.2476_2479delinsG	ENSP00000431259.1:p.Lys826_Ser827delinsAla
NM_001194937.1:c.2635_2638delinsG	NP_001181866.1:p.Lys879_Ser880delinsAla
NM_001194938.1:c.2476_2479delinsG	NP_001181867.1:p.Lys826_Ser827delinsAla
NM_015100.3:c.2662_2665delinsG	NP_055915.2:p.Lys888_Ser889delinsAla
NM_145796.3:c.2377_2380delinsG	NP_665739.3:p.Lys793_Ser794delinsAla
NM_207171.2:c.2503_2506delinsG	NP_997054.1:p.Lys835_Ser836delinsAla
XM_005244999.1:c.2662_2665delinsG	XP_005245056.1:p.Lys888_Ser889delinsAla
XM_005245000.3:c.2662_2665delinsG	XP_005245057.1:p.Lys888_Ser889delinsAla
XM_005245001.1:c.2662_2665delinsG	XP_005245058.1:p.Lys888_Ser889delinsAla
XM_005245005.1:c.2503_2506delinsG	XP_005245062.1:p.Lys835_Ser836delinsAla
XM_005245006.3:c.2503_2506delinsG	XP_005245063.1:p.Lys835_Ser836delinsAla
XM_011509330.1:c.2554_2557delinsG	XP_011507632.1:p.Lys852_Ser853delinsAla
XM_011509331.1:c.2305_2308delinsG	XP_011507633.1:p.Lys769_Ser770delinsAla
XM_005244999.3:c.2662_2665delinsG	XP_005245056.1:p.Lys888_Ser889delinsAla
XM_005245000.4:c.2662_2665delinsG	XP_005245057.1:p.Lys888_Ser889delinsAla
XM_005245001.2:c.2662_2665delinsG	XP_005245058.1:p.Lys888_Ser889delinsAla
XM_005245005.2:c.2503_2506delinsG	XP_005245062.1:p.Lys835_Ser836delinsAla
XM_005245006.5:c.2503_2506delinsG	XP_005245063.1:p.Lys835_Ser836delinsAla
XM_017000744.1:c.2683_2686delinsG	XP_016856233.1:p.Lys895_Ser896delinsAla
XM_017000745.2:c.2635_2638delinsG	XP_016856234.1:p.Lys879_Ser880delinsAla
XM_017000746.1:c.2635_2638delinsG	XP_016856235.1:p.Lys879_Ser880delinsAla
XM_017000748.1:c.2503_2506delinsG	XP_016856237.1:p.Lys835_Ser836delinsAla
XM_017000749.1:c.2503_2506delinsG	XP_016856238.1:p.Lys835_Ser836delinsAla
XM_024454305.1:c.2536_2539delinsG	XP_024310073.1:p.Lys846_Ser847delinsAla
XM_024454306.1:c.1462_1465delinsG	XP_024310074.1:p.Lys488_Ser489delinsAla
XR_002959801.1:n.2517_2520delinsG
NM_015100.4:c.2662_2665delinsG MANE Select	NP_055915.2:p.Lys888_Ser889delinsAla
NM_001194937.2:c.2635_2638delinsG	NP_001181866.1:p.Lys879_Ser880delinsAla
NM_001194938.2:c.2476_2479delinsG	NP_001181867.1:p.Lys826_Ser827delinsAla
NM_145796.4:c.2377_2380delinsG	NP_665739.3:p.Lys793_Ser794delinsAla