Canonical Allele Identifier: CA931218907

Gene: IDE

Linked Data

• gnomAD v3: 10-92508552-T-TAAAAAAAAAA
• gnomAD v4: 10-92508552-T-TAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.92508558_92508559insAAAAAAAAAA , CM000672.2:g.92508558_92508559insAAAAAAAAAA	GRCh38
NC_000010.10:g.94268315_94268316insAAAAAAAAAA , CM000672.1:g.94268315_94268316insAAAAAAAAAA	GRCh37
NC_000010.9:g.94258295_94258296insAAAAAAAAAA	NCBI36
NG_013012.1:g.70543_70544insTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650060.2:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000497272.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000265986.11:c.1060+175_1060+176insTTTTTTTTTT MANE Select	ENSP00000265986.6:n.1060+175_1060+176insTTTTTTTTTT
ENST00000650060.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000497272.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000676540.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000504633.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000676626.1:n.1677+175_1677+176insTTTTTTTTTT
ENST00000676816.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000504709.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000677079.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000503417.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000677096.1:c.*1056+175_*1056+176insTTTTTTTTTT	ENSP00000503793.1:n.*1056+175_*1056+176insTTTTTTTTTT
ENST00000677196.1:n.1137+175_1137+176insTTTTTTTTTT
ENST00000677434.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000503274.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000677569.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000503462.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000677953.1:n.1137+175_1137+176insTTTTTTTTTT
ENST00000677978.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000503310.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000678026.1:n.1677+175_1677+176insTTTTTTTTTT
ENST00000678248.1:n.1137+175_1137+176insTTTTTTTTTT
ENST00000678458.1:n.1052+175_1052+176insTTTTTTTTTT
ENST00000678673.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000503082.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000678715.1:c.937+175_937+176insTTTTTTTTTT	ENSP00000503025.1:n.937+175_937+176insTTTTTTTTTT
ENST00000678844.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000504561.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000678977.1:n.1137+175_1137+176insTTTTTTTTTT
ENST00000679069.1:n.1137+175_1137+176insTTTTTTTTTT
ENST00000679089.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000504067.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000679174.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000504758.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000679222.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000504070.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000679232.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000503818.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000679312.1:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000504442.1:n.1060+175_1060+176insTTTTTTTTTT
ENST00000265986.10:c.1060+175_1060+176insTTTTTTTTTT	ENSP00000265986.6:n.1060+175_1060+176insTTTTTTTTTT
ENST00000478361.6:c.*1270+175_*1270+176insTTTTTTTTTT	ENSP00000473506.1:n.*1270+175_*1270+176insTTTTTTTTTT
NM_004969.3:c.1060+175_1060+176insTTTTTTTTTT	NP_004960.2:n.1060+175_1060+176insTTTTTTTTTT
XM_005269766.2:c.1060+175_1060+176insTTTTTTTTTT	XP_005269823.1:n.1060+175_1060+176insTTTTTTTTTT
XM_005269769.3:c.1060+175_1060+176insTTTTTTTTTT	XP_005269826.1:n.1060+175_1060+176insTTTTTTTTTT
XR_945727.1:n.1134+175_1134+176insTTTTTTTTTT
NM_001322793.1:c.1060+175_1060+176insTTTTTTTTTT	NP_001309722.1:n.1060+175_1060+176insTTTTTTTTTT
NM_001322794.1:c.943+175_943+176insTTTTTTTTTT	NP_001309723.1:n.943+175_943+176insTTTTTTTTTT
NM_001322795.1:c.937+175_937+176insTTTTTTTTTT	NP_001309724.1:n.937+175_937+176insTTTTTTTTTT
NM_001322796.1:c.937+175_937+176insTTTTTTTTTT	NP_001309725.1:n.937+175_937+176insTTTTTTTTTT
NR_136399.1:n.1136+175_1136+176insTTTTTTTTTT
XM_017016187.1:c.937+175_937+176insTTTTTTTTTT	XP_016871676.1:n.937+175_937+176insTTTTTTTTTT
XM_017016188.1:c.937+175_937+176insTTTTTTTTTT	XP_016871677.1:n.937+175_937+176insTTTTTTTTTT
XM_017016189.1:c.937+175_937+176insTTTTTTTTTT	XP_016871678.1:n.937+175_937+176insTTTTTTTTTT
XM_017016190.1:c.937+175_937+176insTTTTTTTTTT	XP_016871679.1:n.937+175_937+176insTTTTTTTTTT
XR_001747103.2:n.1134+175_1134+176insTTTTTTTTTT
XR_945727.3:n.1134+175_1134+176insTTTTTTTTTT
NM_004969.4:c.1060+175_1060+176insTTTTTTTTTT MANE Select	NP_004960.2:n.1060+175_1060+176insTTTTTTTTTT
NM_001322793.2:c.1060+175_1060+176insTTTTTTTTTT	NP_001309722.1:n.1060+175_1060+176insTTTTTTTTTT
NM_001322794.2:c.943+175_943+176insTTTTTTTTTT	NP_001309723.1:n.943+175_943+176insTTTTTTTTTT
NM_001322795.2:c.937+175_937+176insTTTTTTTTTT	NP_001309724.1:n.937+175_937+176insTTTTTTTTTT
NR_136399.2:n.1134+175_1134+176insTTTTTTTTTT