Canonical Allele Identifier: CA1140557281

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226893842_226893845delinsGGGG , CM000663.2:g.226893842_226893845delinsGGGG	GRCh38
NC_000001.10:g.227081543_227081546delinsGGGG , CM000663.1:g.227081543_227081546delinsGGGG	GRCh37
NC_000001.9:g.225148166_225148169delinsGGGG	NCBI36
NG_007381.1:g.28271_28274delinsGGGG
NG_012825.2:g.1307_1310delinsGGGG
NG_007381.2:g.28659_28662delinsGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-165_1073-162delinsGGGG	ENSP00000355741.2:n.1073-165_1073-162delinsGGGG
ENST00000366782.6:c.1073-165_1073-162delinsGGGG	ENSP00000355746.2:n.1073-165_1073-162delinsGGGG
ENST00000366783.8:c.1073-165_1073-162delinsGGGG MANE Select	ENSP00000355747.3:n.1073-165_1073-162delinsGGGG
ENST00000471728.2:n.1711-165_1711-162delinsGGGG
ENST00000524196.6:c.1073-165_1073-162delinsGGGG	ENSP00000429036.2:n.1073-165_1073-162delinsGGGG
ENST00000626989.3:c.1073-165_1073-162delinsGGGG	ENSP00000486498.2:n.1073-165_1073-162delinsGGGG
ENST00000676467.1:c.*900-165_*900-162delinsGGGG	ENSP00000504294.1:n.*900-165_*900-162delinsGGGG
ENST00000676747.1:c.1070-165_1070-162delinsGGGG	ENSP00000503244.1:n.1070-165_1070-162delinsGGGG
ENST00000676884.1:c.1073-165_1073-162delinsGGGG	ENSP00000503200.1:n.1073-165_1073-162delinsGGGG
ENST00000676888.1:c.*414-165_*414-162delinsGGGG	ENSP00000504483.1:n.*414-165_*414-162delinsGGGG
ENST00000676907.1:c.*652-165_*652-162delinsGGGG	ENSP00000504410.1:n.*652-165_*652-162delinsGGGG
ENST00000676945.1:c.1073-165_1073-162delinsGGGG	ENSP00000504433.1:n.1073-165_1073-162delinsGGGG
ENST00000677065.1:n.1634-165_1634-162delinsGGGG
ENST00000677414.1:c.1073-165_1073-162delinsGGGG	ENSP00000503116.1:n.1073-165_1073-162delinsGGGG
ENST00000677529.1:n.2803-165_2803-162delinsGGGG
ENST00000677596.1:c.*1295-165_*1295-162delinsGGGG	ENSP00000503618.1:n.*1295-165_*1295-162delinsGGGG
ENST00000677599.1:c.1073-165_1073-162delinsGGGG	ENSP00000503673.1:n.1073-165_1073-162delinsGGGG
ENST00000677748.1:n.3328-165_3328-162delinsGGGG
ENST00000677880.1:c.638-165_638-162delinsGGGG	ENSP00000503121.1:n.638-165_638-162delinsGGGG
ENST00000678021.1:c.*696-165_*696-162delinsGGGG	ENSP00000504674.1:n.*696-165_*696-162delinsGGGG
ENST00000678233.1:c.1073-165_1073-162delinsGGGG	ENSP00000504728.1:n.1073-165_1073-162delinsGGGG
ENST00000678320.1:c.974-165_974-162delinsGGGG	ENSP00000503680.1:n.974-165_974-162delinsGGGG
ENST00000678655.1:c.974-165_974-162delinsGGGG	ENSP00000504230.1:n.974-165_974-162delinsGGGG
ENST00000678706.1:c.*450-165_*450-162delinsGGGG	ENSP00000503659.1:n.*450-165_*450-162delinsGGGG
ENST00000678776.1:c.*1210-165_*1210-162delinsGGGG	ENSP00000504624.1:n.*1210-165_*1210-162delinsGGGG
ENST00000678784.1:c.1072+1998_1072+2001delinsGGGG	ENSP00000504652.1:n.1072+1998_1072+2001delinsGGGG
ENST00000678820.1:c.971-165_971-162delinsGGGG	ENSP00000504138.1:n.971-165_971-162delinsGGGG
ENST00000678835.1:c.*756+1998_*756+2001delinsGGGG	ENSP00000504343.1:n.*756+1998_*756+2001delinsGGGG
ENST00000679088.1:c.1073-165_1073-162delinsGGGG	ENSP00000504727.1:n.1073-165_1073-162delinsGGGG
ENST00000679098.1:c.1073-165_1073-162delinsGGGG	ENSP00000504303.1:n.1073-165_1073-162delinsGGGG
ENST00000366782.5:c.1172-165_1172-162delinsGGGG	ENSP00000355746.1:n.1172-165_1172-162delinsGGGG
ENST00000366783.7:c.1073-165_1073-162delinsGGGG	ENSP00000355747.3:n.1073-165_1073-162delinsGGGG
ENST00000422240.6:c.1070-165_1070-162delinsGGGG	ENSP00000403737.2:n.1070-165_1070-162delinsGGGG
ENST00000471728.1:n.331-165_331-162delinsGGGG
ENST00000472139.2:c.641-165_641-162delinsGGGG	ENSP00000427806.1:n.641-165_641-162delinsGGGG
ENST00000626989.2:c.1172-165_1172-162delinsGGGG	ENSP00000486498.1:n.1172-165_1172-162delinsGGGG
NM_000447.2:c.1073-165_1073-162delinsGGGG	NP_000438.2:n.1073-165_1073-162delinsGGGG
NM_012486.2:c.1070-165_1070-162delinsGGGG	NP_036618.2:n.1070-165_1070-162delinsGGGG
XM_005273199.2:c.1073-165_1073-162delinsGGGG	XP_005273256.1:n.1073-165_1073-162delinsGGGG
XM_011544236.1:c.641-165_641-162delinsGGGG	XP_011542538.1:n.641-165_641-162delinsGGGG
XR_949149.1:n.1807-165_1807-162delinsGGGG
XM_005273199.4:c.1073-165_1073-162delinsGGGG	XP_005273256.1:n.1073-165_1073-162delinsGGGG
XM_017001835.1:c.1073-165_1073-162delinsGGGG	XP_016857324.1:n.1073-165_1073-162delinsGGGG
XM_017001836.1:c.1070-165_1070-162delinsGGGG	XP_016857325.1:n.1070-165_1070-162delinsGGGG
XR_001737316.2:n.1477+1998_1477+2001delinsGGGG
XR_001737317.2:n.1477+1998_1477+2001delinsGGGG
XR_001737318.2:n.1788-165_1788-162delinsGGGG
XR_001737319.1:n.2131-165_2131-162delinsGGGG
XR_001737320.1:n.2128-165_2128-162delinsGGGG
XR_001737321.1:n.1623-165_1623-162delinsGGGG
XR_949149.2:n.1785-165_1785-162delinsGGGG
XR_949150.3:n.2004-165_2004-162delinsGGGG
NM_000447.3:c.1073-165_1073-162delinsGGGG MANE Select	NP_000438.2:n.1073-165_1073-162delinsGGGG
NM_012486.3:c.1070-165_1070-162delinsGGGG	NP_036618.2:n.1070-165_1070-162delinsGGGG