ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135998099_135998103del , CM000685.2:g.135998099_135998103del | GRCh38 |
| NC_000023.10:g.135080258_135080262del , CM000685.1:g.135080258_135080262del | GRCh37 |
| NC_000023.9:g.134907924_134907928del | NCBI36 |
| NG_017160.1:g.17673_17677del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370695.8:c.526-9_526-5del | ENSP00000359729.4:n.526-9_526-5del | |
| ENST00000370701.6:c.370-9_370-5del | ENSP00000359735.1:n.370-9_370-5del | |
| ENST00000630721.3:c.370-9_370-5del MANE Select | ENSP00000487486.2:n.370-9_370-5del | |
| ENST00000636092.1:c.370-9_370-5del | ENSP00000490406.1:n.370-9_370-5del | |
| ENST00000636347.1:c.370-9_370-5del | ENSP00000490648.1:n.370-9_370-5del | |
| ENST00000637195.1:c.274-9_274-5del | ENSP00000490330.1:n.274-9_274-5del | |
| ENST00000637234.1:c.370-9_370-5del | ENSP00000490527.1:n.370-9_370-5del | |
| ENST00000637581.1:c.370-9_370-5del | ENSP00000490731.1:n.370-9_370-5del | |
| ENST00000643775.1:n.313-9_313-5del | ||
| ENST00000674809.1:c.313-9_313-5del | ENSP00000502455.1:n.313-9_313-5del | |
| ENST00000675550.1:n.311-9_311-5del | ||
| ENST00000675856.1:n.313-9_313-5del | ||
| ENST00000676043.1:c.313-9_313-5del | ENSP00000501920.1:n.313-9_313-5del | |
| ENST00000678163.1:c.526-9_526-5del | ENSP00000502845.1:n.526-9_526-5del | |
| ENST00000370695.6:c.526-9_526-5del | ENSP00000359729.4:n.526-9_526-5del | |
| ENST00000370698.7:c.430-9_430-5del | ENSP00000359732.3:n.430-9_430-5del | |
| ENST00000370701.5:c.370-9_370-5del | ENSP00000359735.1:n.370-9_370-5del | |
| ENST00000627534.2:c.370-9_370-5del | ENSP00000486743.1:n.370-9_370-5del | |
| NM_001042537.1:c.526-9_526-5del | NP_001036002.1:n.526-9_526-5del | |
| NM_001177651.1:c.370-9_370-5del | NP_001171122.1:n.370-9_370-5del | |
| NM_006359.2:c.430-9_430-5del | NP_006350.1:n.430-9_430-5del | |
| XM_006724726.2:c.370-9_370-5del | XP_006724789.1:n.370-9_370-5del | |
| XM_011531243.1:c.274-9_274-5del | XP_011529545.1:n.274-9_274-5del | |
| NM_001330652.1:c.274-9_274-5del | NP_001317581.1:n.274-9_274-5del | |
| XM_006724726.3:c.370-9_370-5del | XP_006724789.1:n.370-9_370-5del | |
| XM_017029223.2:c.370-9_370-5del | XP_016884712.1:n.370-9_370-5del | |
| XM_017029224.1:c.370-9_370-5del | XP_016884713.1:n.370-9_370-5del | |
| XM_017029225.1:c.274-9_274-5del | XP_016884714.1:n.274-9_274-5del | |
| NM_001177651.2:c.370-9_370-5del | NP_001171122.1:n.370-9_370-5del | |
| NM_001330652.2:c.274-9_274-5del | NP_001317581.1:n.274-9_274-5del | |
| NM_006359.3:c.430-9_430-5del | NP_006350.1:n.430-9_430-5del | |
| NM_001042537.2:c.526-9_526-5del | NP_001036002.1:n.526-9_526-5del | |
| NM_001379110.1:c.370-9_370-5del MANE Select | NP_001366039.1:n.370-9_370-5del | |
| NM_001400909.1:c.370-9_370-5del | NP_001387838.1:n.370-9_370-5del | |
| NM_001400910.1:c.370-9_370-5del | NP_001387839.1:n.370-9_370-5del | |
| NM_001400911.1:c.370-9_370-5del | NP_001387840.1:n.370-9_370-5del | |
| NM_001400912.1:c.370-9_370-5del | NP_001387841.1:n.370-9_370-5del | |
| NM_001400913.1:c.274-9_274-5del | NP_001387842.1:n.274-9_274-5del |