Linked Data
gnomAD v3:
9-127824512-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
9-127824512-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824536_127824537insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000671.2:g.127824536_127824537insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000009.11:g.130586815_130586816insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000671.1:g.130586815_130586816insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000009.10:g.129626636_129626637insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_009551.1:g.35256_35257insAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_589:g.35256_35257insAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000479015.1:n.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000373203.9:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000362299.4:n.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000344849.4:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000341917.3:n.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000373203.8:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000362299.4:n.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000480266.5:c.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000479015.1:n.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000118.3:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_589t1:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000109.1:n.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001114753.2:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_589t2:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001108225.1:n.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001278138.1:c.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001265067.1:n.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001114753.3:c.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_001108225.1:n.992-67_992-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001278138.2:c.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001265067.1:n.446-67_446-66insAAAAAAAAAAAAAAAAAAAAAAAAAAA |