Canonical Allele Identifier: CA2741118160
Gene: IDE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.92508575_92508576insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.2:g.92508575_92508576insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh38
NC_000010.10:g.94268332_94268333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.1:g.94268332_94268333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh37
NC_000010.9:g.94258312_94258313insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NCBI36
NG_013012.1:g.70536_70537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650060.2:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000497272.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000265986.11:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000265986.6:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000650060.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000497272.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000676540.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000504633.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000676626.1:n.1677+168_1677+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000676816.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000504709.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000677079.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503417.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000677096.1:c.*1056+168_*1056+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503793.1:n.*1056+168_*1056+169insTTTTTTTTTTTTTTTTTTT...
ENST00000677196.1:n.1137+168_1137+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000677434.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503274.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000677569.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503462.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000677953.1:n.1137+168_1137+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000677978.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503310.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000678026.1:n.1677+168_1677+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000678248.1:n.1137+168_1137+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000678458.1:n.1052+168_1052+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000678673.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503082.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000678715.1:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503025.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000678844.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000504561.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000678977.1:n.1137+168_1137+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000679069.1:n.1137+168_1137+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000679089.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000504067.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000679174.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000504758.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000679222.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000504070.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000679232.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000503818.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000679312.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000504442.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000265986.10:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000265986.6:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTT...
ENST00000478361.6:c.*1270+168_*1270+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000473506.1:n.*1270+168_*1270+169insTTTTTTTTTTTTTTTTTTT...
NM_004969.3:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_004960.2:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005269766.2:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005269823.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005269769.3:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005269826.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTT...
XR_945727.1:n.1134+168_1134+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001322793.1:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001309722.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001322794.1:c.943+168_943+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001309723.1:n.943+168_943+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001322795.1:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001309724.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001322796.1:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001309725.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_136399.1:n.1136+168_1136+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_017016187.1:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016871676.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017016188.1:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016871677.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017016189.1:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016871678.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017016190.1:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016871679.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_001747103.2:n.1134+168_1134+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_945727.3:n.1134+168_1134+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_004969.4:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_004960.2:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001322793.2:c.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001309722.1:n.1060+168_1060+169insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001322794.2:c.943+168_943+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001309723.1:n.943+168_943+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001322795.2:c.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001309724.1:n.937+168_937+169insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_136399.2:n.1134+168_1134+169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT