Canonical Allele Identifier: CA1225085530

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896106_226896108delinsGTT , CM000663.2:g.226896106_226896108delinsGTT	GRCh38
NC_000001.10:g.227083807_227083809delinsGTT , CM000663.1:g.227083807_227083809delinsGTT	GRCh37
NC_000001.9:g.225150430_225150432delinsGTT	NCBI36
NG_007381.1:g.30535_30537delinsGTT
NG_012825.2:g.3571_3573delinsGTT
NG_007381.2:g.30923_30925delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*527_*529delinsGTT	ENSP00000355741.2:n.*527_*529delinsGTT
ENST00000524196.6:c.*527_*529delinsGTT	ENSP00000429036.2:n.*527_*529delinsGTT
ENST00000676747.1:c.1189-1614_1189-1612delinsGTT	ENSP00000503244.1:n.1189-1614_1189-1612delinsGTT
ENST00000676884.1:c.*527_*529delinsGTT	ENSP00000503200.1:n.*527_*529delinsGTT
ENST00000676945.1:c.1191+1981_1191+1983delinsGTT	ENSP00000504433.1:n.1191+1981_1191+1983delinsGTT
ENST00000677599.1:c.1191+1981_1191+1983delinsGTT	ENSP00000503673.1:n.1191+1981_1191+1983delinsGTT
ENST00000678233.1:c.*8+519_*8+521delinsGTT	ENSP00000504728.1:n.*8+519_*8+521delinsGTT
ENST00000678655.1:c.1093-1614_1093-1612delinsGTT	ENSP00000504230.1:n.1093-1614_1093-1612delinsGTT
ENST00000678784.1:c.1073-1614_1073-1612delinsGTT	ENSP00000504652.1:n.1073-1614_1073-1612delinsGTT
ENST00000678820.1:c.1090-1614_1090-1612delinsGTT	ENSP00000504138.1:n.1090-1614_1090-1612delinsGTT
ENST00000678835.1:c.*757-1614_*757-1612delinsGTT	ENSP00000504343.1:n.*757-1614_*757-1612delinsGTT
ENST00000679098.1:c.*8+519_*8+521delinsGTT	ENSP00000504303.1:n.*8+519_*8+521delinsGTT
XR_001737316.2:n.1478-1614_1478-1612delinsGTT
XR_001737317.2:n.1478-1614_1478-1612delinsGTT