Linked Data
gnomAD v3:
17-81511120-AGCCCTCCCTTAGTGATGCTGTGTC-A
gnomAD v4:
17-81511120-AGCCCTCCCTTAGTGATGCTGTGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81511121_81511144del , CM000679.2:g.81511121_81511144del | GRCh38 |
| NC_000017.10:g.79478147_79478170del , CM000679.1:g.79478147_79478170del | GRCh37 |
| NC_000017.9:g.77092742_77092765del | NCBI36 |
| NG_011433.1:g.6658_6681del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.803-36_803-13del | ENSP00000466346.2:n.803-36_803-13del | |
| ENST00000571691.6:c.731-36_731-13del | ENSP00000461407.2:n.731-36_731-13del | |
| ENST00000571721.6:c.803-36_803-13del | ENSP00000460660.2:n.803-36_803-13del | |
| ENST00000572105.7:c.*247-36_*247-13del | ENSP00000462823.1:n.*247-36_*247-13del | |
| ENST00000573283.7:c.803-36_803-13del MANE Select | ENSP00000458435.1:n.803-36_803-13del | |
| ENST00000574671.6:n.1203-36_1203-13del | ||
| ENST00000575659.6:c.803-36_803-13del | ENSP00000459119.2:n.803-36_803-13del | |
| ENST00000575994.6:c.803-36_803-13del | ENSP00000460464.2:n.803-36_803-13del | |
| ENST00000576214.3:n.1104-36_1104-13del | ||
| ENST00000576544.6:c.803-36_803-13del | ENSP00000461672.1:n.803-36_803-13del | |
| ENST00000615544.5:c.803-36_803-13del | ENSP00000477968.1:n.803-36_803-13del | |
| ENST00000644774.2:c.776-36_776-13del | ENSP00000493648.2:n.776-36_776-13del | |
| ENST00000679410.1:n.970_993del | ||
| ENST00000679480.1:c.803-36_803-13del | ENSP00000506201.1:n.803-36_803-13del | |
| ENST00000679535.1:n.1104-36_1104-13del | ||
| ENST00000679778.1:c.803-36_803-13del | ENSP00000505235.1:n.803-36_803-13del | |
| ENST00000680227.1:c.803-36_803-13del | ENSP00000506253.1:n.803-36_803-13del | |
| ENST00000680727.1:c.803-36_803-13del | ENSP00000505193.1:n.803-36_803-13del | |
| ENST00000681052.1:c.803-36_803-13del | ENSP00000505060.1:n.803-36_803-13del | |
| ENST00000681092.1:c.*607-36_*607-13del | ENSP00000506720.1:n.*607-36_*607-13del | |
| ENST00000681842.1:c.803-36_803-13del | ENSP00000506126.1:n.803-36_803-13del | |
| ENST00000331925.6:c.803-36_803-13del | ENSP00000331514.2:n.803-36_803-13del | |
| ENST00000572105.6:c.*247-36_*247-13del | ENSP00000462823.1:n.*247-36_*247-13del | |
| ENST00000573283.5:c.803-36_803-13del | ENSP00000458435.1:n.803-36_803-13del | |
| ENST00000574671.5:n.662-36_662-13del | ||
| ENST00000575087.5:c.803-36_803-13del | ENSP00000459124.1:n.803-36_803-13del | |
| ENST00000575842.5:c.803-36_803-13del | ENSP00000458162.1:n.803-36_803-13del | |
| ENST00000576209.5:n.688-36_688-13del | ||
| ENST00000576214.2:n.1001-36_1001-13del | ||
| ENST00000576544.5:c.803-36_803-13del | ENSP00000461672.1:n.803-36_803-13del | |
| ENST00000576917.5:n.899_922del | ||
| ENST00000615544.4:c.803-36_803-13del | ENSP00000477968.1:n.803-36_803-13del | |
| NM_001199954.1:c.803-36_803-13del | NP_001186883.1:n.803-36_803-13del | |
| NM_001614.3:c.803-36_803-13del | NP_001605.1:n.803-36_803-13del | |
| NR_037688.1:n.942-36_942-13del | ||
| NM_001199954.2:c.803-36_803-13del | NP_001186883.1:n.803-36_803-13del | |
| NM_001614.4:c.803-36_803-13del | NP_001605.1:n.803-36_803-13del | |
| NR_037688.2:n.875-36_875-13del | ||
| NM_001614.5:c.803-36_803-13del MANE Select | NP_001605.1:n.803-36_803-13del | |
| NR_037688.3:n.875-36_875-13del | ||
| NM_001199954.3:c.803-36_803-13del | NP_001186883.1:n.803-36_803-13del |