Canonical Allele Identifier: CA2573901836

Gene: POGZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151424962_151424963del , CM000663.2:g.151424962_151424963del	GRCh38
NC_000001.10:g.151397438_151397439del , CM000663.1:g.151397438_151397439del	GRCh37
NC_000001.9:g.149664062_149664063del	NCBI36
NG_046601.1:g.39505_39506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.1227_1228del	ENSP00000518163.1:p.Met410ValfsTer9
ENST00000392723.6:c.1020_1021del	ENSP00000376484.1:p.Met341ValfsTer9
ENST00000439756.2:c.1179_1180del	ENSP00000390156.2:p.Met394ValfsTer9
ENST00000703168.1:c.1200_1201del	ENSP00000515214.1:p.Met401ValfsTer9
ENST00000703169.1:c.1152_1153del	ENSP00000515215.1:p.Met385ValfsTer9
ENST00000271715.7:c.1179_1180del MANE Select	ENSP00000271715.2:p.Met394ValfsTer9
ENST00000271715.6:c.1179_1180del	ENSP00000271715.2:p.Met394ValfsTer9
ENST00000358476.7:n.1048_1049del
ENST00000368863.6:c.894_895del	ENSP00000357856.2:p.Met299ValfsTer9
ENST00000392723.5:c.1020_1021del	ENSP00000376484.1:p.Met341ValfsTer9
ENST00000409503.5:c.1152_1153del	ENSP00000386836.1:p.Met385ValfsTer9
ENST00000441516.1:c.159-675_159-674del
ENST00000491586.5:c.1020_1021del	ENSP00000418408.1:p.Met341ValfsTer9
ENST00000495253.1:n.334_335del
ENST00000531094.5:c.993_994del	ENSP00000431259.1:p.Met332ValfsTer9
NM_001194937.1:c.1152_1153del	NP_001181866.1:p.Met385ValfsTer9
NM_001194938.1:c.993_994del	NP_001181867.1:p.Met332ValfsTer9
NM_015100.3:c.1179_1180del	NP_055915.2:p.Met394ValfsTer9
NM_145796.3:c.894_895del	NP_665739.3:p.Met299ValfsTer9
NM_207171.2:c.1020_1021del	NP_997054.1:p.Met341ValfsTer9
XM_005244999.1:c.1179_1180del	XP_005245056.1:p.Met394ValfsTer9
XM_005245000.3:c.1179_1180del	XP_005245057.1:p.Met394ValfsTer9
XM_005245001.1:c.1179_1180del	XP_005245058.1:p.Met394ValfsTer9
XM_005245005.1:c.1020_1021del	XP_005245062.1:p.Met341ValfsTer9
XM_005245006.3:c.1020_1021del	XP_005245063.1:p.Met341ValfsTer9
XM_011509330.1:c.1071_1072del	XP_011507632.1:p.Met358ValfsTer9
XM_011509331.1:c.822_823del	XP_011507633.1:p.Met275ValfsTer9
XR_921760.1:n.1180_1181del
XM_005244999.3:c.1179_1180del	XP_005245056.1:p.Met394ValfsTer9
XM_005245000.4:c.1179_1180del	XP_005245057.1:p.Met394ValfsTer9
XM_005245001.2:c.1179_1180del	XP_005245058.1:p.Met394ValfsTer9
XM_005245005.2:c.1020_1021del	XP_005245062.1:p.Met341ValfsTer9
XM_005245006.5:c.1020_1021del	XP_005245063.1:p.Met341ValfsTer9
XM_017000744.1:c.1200_1201del	XP_016856233.1:p.Met401ValfsTer9
XM_017000745.2:c.1152_1153del	XP_016856234.1:p.Met385ValfsTer9
XM_017000746.1:c.1152_1153del	XP_016856235.1:p.Met385ValfsTer9
XM_017000748.1:c.1020_1021del	XP_016856237.1:p.Met341ValfsTer9
XM_017000749.1:c.1020_1021del	XP_016856238.1:p.Met341ValfsTer9
XM_024454305.1:c.1200_1201del	XP_024310073.1:p.Met401ValfsTer9
XM_024454306.1:c.-15-675_-15-674del	XP_024310074.1:n.-15-675_-15-674del
XR_002959801.1:n.1207_1208del
NM_015100.4:c.1179_1180del MANE Select	NP_055915.2:p.Met394ValfsTer9
NM_001194937.2:c.1152_1153del	NP_001181866.1:p.Met385ValfsTer9
NM_001194938.2:c.993_994del	NP_001181867.1:p.Met332ValfsTer9
NM_145796.4:c.894_895del	NP_665739.3:p.Met299ValfsTer9