Linked Data
dbSNP Id:
rs1171175477
gnomAD v2:
17-79826523-AGAAGCAGCAAC-A
gnomAD v4:
17-81868647-AGAAGCAGCAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81868650_81868660del , CM000679.2:g.81868650_81868660del | GRCh38 |
| NC_000017.10:g.79826526_79826536del , CM000679.1:g.79826526_79826536del | GRCh37 |
| NC_000017.9:g.77419815_77419825del | NCBI36 |
| NG_034210.1:g.7749_7759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269321.12:c.*218_*228del MANE Select | ENSP00000269321.7:n.*218_*228del | |
| ENST00000269321.11:c.*218_*228del | ENSP00000269321.7:n.*218_*228del | |
| ENST00000400721.8:c.*218_*228del | ENSP00000383556.4:n.*218_*228del | |
| ENST00000541078.6:c.*218_*228del | ENSP00000441348.2:n.*218_*228del | |
| ENST00000579121.5:c.503-74_503-64del | ENSP00000462960.1:n.503-74_503-64del | |
| ENST00000580685.5:c.*218_*228del | ENSP00000464205.1:n.*218_*228del | |
| ENST00000581876.5:c.*218_*228del | ENSP00000461956.1:n.*218_*228del | |
| ENST00000583868.5:c.721_731del | ENSP00000462209.1:p.Val241CysfsTer? | |
| ENST00000584461.5:c.503-74_503-64del | ENSP00000463939.1:n.503-74_503-64del | |
| NM_001185077.2:c.*218_*228del | NP_001172006.1:n.*218_*228del | |
| NM_001185078.2:c.*218_*228del | NP_001172007.1:n.*218_*228del | |
| NM_001301240.1:c.503-74_503-64del | NP_001288169.1:n.503-74_503-64del | |
| NM_001301241.1:c.503-74_503-64del | NP_001288170.1:n.503-74_503-64del | |
| NM_001301242.1:c.721_731del | NP_001288171.1:p.Val241CysfsTer? | |
| NM_001301243.1:c.*218_*228del | NP_001288172.1:n.*218_*228del | |
| NM_004309.5:c.*218_*228del | NP_004300.1:n.*218_*228del | |
| NR_125441.1:n.892_902del | ||
| XM_011523574.1:c.*218_*228del | XP_011521876.1:n.*218_*228del | |
| NM_004309.6:c.*218_*228del MANE Select | NP_004300.1:n.*218_*228del | |
| NM_001185077.3:c.*218_*228del | NP_001172006.1:n.*218_*228del | |
| NM_001185078.3:c.*218_*228del | NP_001172007.1:n.*218_*228del | |
| NM_001301240.2:c.503-74_503-64del | NP_001288169.1:n.503-74_503-64del | |
| NM_001301241.2:c.503-74_503-64del | NP_001288170.1:n.503-74_503-64del | |
| NM_001301242.2:c.721_731del | NP_001288171.1:p.Val241CysfsTer? | |
| NM_001301243.2:c.*218_*228del | NP_001288172.1:n.*218_*228del | |
| NR_125441.2:n.823_833del |