Linked Data
gnomAD v3:
10-92508565-A-AAAAAAAAAAAAAAAAAAAACAAAAAAAAC
gnomAD v4:
10-92508565-A-AAAAAAAAAAAAAAAAAAAACAAAAAAAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92508575_92508576insAAAAAAAAACAAAAAAAACAAAAAAAAAA , CM000672.2:g.92508575_92508576insAAAAAAAAACAAAAAAAACAAAAAAAAAA | GRCh38 |
| NC_000010.10:g.94268332_94268333insAAAAAAAAACAAAAAAAACAAAAAAAAAA , CM000672.1:g.94268332_94268333insAAAAAAAAACAAAAAAAACAAAAAAAAAA | GRCh37 |
| NC_000010.9:g.94258312_94258313insAAAAAAAAACAAAAAAAACAAAAAAAAAA | NCBI36 |
| NG_013012.1:g.70530_70531insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650060.2:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000497272.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000265986.11:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000265986.6:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000650060.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000497272.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000676540.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000504633.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000676626.1:n.1677+162_1677+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000676816.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000504709.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000677079.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503417.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000677096.1:c.*1056+162_*1056+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503793.1:n.*1056+162_*1056+163insGTTTTTTTTGTTTTTTTTT... | |
| ENST00000677196.1:n.1137+162_1137+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000677434.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503274.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000677569.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503462.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000677953.1:n.1137+162_1137+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000677978.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503310.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000678026.1:n.1677+162_1677+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000678248.1:n.1137+162_1137+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000678458.1:n.1052+162_1052+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000678673.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503082.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000678715.1:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503025.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTT... | |
| ENST00000678844.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000504561.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000678977.1:n.1137+162_1137+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000679069.1:n.1137+162_1137+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| ENST00000679089.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000504067.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000679174.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000504758.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000679222.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000504070.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000679232.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000503818.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000679312.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000504442.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000265986.10:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000265986.6:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTT... | |
| ENST00000478361.6:c.*1270+162_*1270+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ENSP00000473506.1:n.*1270+162_*1270+163insGTTTTTTTTGTTTTTTTTT... | |
| NM_004969.3:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_004960.2:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTT... | |
| XM_005269766.2:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | XP_005269823.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTT... | |
| XM_005269769.3:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | XP_005269826.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTT... | |
| XR_945727.1:n.1134+162_1134+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| NM_001322793.1:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_001309722.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTT... | |
| NM_001322794.1:c.943+162_943+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_001309723.1:n.943+162_943+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| NM_001322795.1:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_001309724.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| NM_001322796.1:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_001309725.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| NR_136399.1:n.1136+162_1136+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| XM_017016187.1:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | XP_016871676.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| XM_017016188.1:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | XP_016871677.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| XM_017016189.1:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | XP_016871678.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| XM_017016190.1:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | XP_016871679.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| XR_001747103.2:n.1134+162_1134+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| XR_945727.3:n.1134+162_1134+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | ||
| NM_004969.4:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT MANE Select | NP_004960.2:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTT... | |
| NM_001322793.2:c.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_001309722.1:n.1060+162_1060+163insGTTTTTTTTGTTTTTTTTTTTTTT... | |
| NM_001322794.2:c.943+162_943+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_001309723.1:n.943+162_943+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| NM_001322795.2:c.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT | NP_001309724.1:n.937+162_937+163insGTTTTTTTTGTTTTTTTTTTTTTTTT... | |
| NR_136399.2:n.1134+162_1134+163insGTTTTTTTTGTTTTTTTTTTTTTTTTTTT |