ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49600411del , CM000679.2:g.49600411del | GRCh38 |
| NC_000017.10:g.47677773del , CM000679.1:g.47677773del | GRCh37 |
| NC_000017.9:g.45032772del | NCBI36 |
| NG_041815.1:g.82755del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504102.6:c.1094del MANE Select | ENSP00000425905.1:p.Gly365AspfsTer7 | |
| ENST00000509079.6:c.1094del | ENSP00000426986.2:p.Gly365AspfsTer7 | |
| ENST00000513080.6:c.*943del | ENSP00000499333.1:n.*943del | |
| ENST00000514121.6:c.1094del | ENSP00000424119.2:p.Gly365AspfsTer7 | |
| ENST00000659760.1:c.*656del | ENSP00000499367.1:n.*656del | |
| ENST00000665825.1:c.1094del | ENSP00000499562.1:p.Gly365AspfsTer7 | |
| ENST00000671445.1:c.*943del | ENSP00000499537.1:n.*943del | |
| ENST00000347630.6:c.1094del | ENSP00000240327.2:p.Gly365AspfsTer7 | |
| ENST00000393328.6:c.1094del | ENSP00000377001.2:p.Gly365AspfsTer7 | |
| ENST00000503676.5:c.1094del | ENSP00000420908.1:p.Gly365AspfsTer7 | |
| ENST00000504102.5:c.1094del | ENSP00000425905.1:p.Gly365AspfsTer7 | |
| ENST00000507551.1:n.832del | ||
| ENST00000572686.1:n.1223del | ||
| ENST00000577134.1:n.291del | ||
| NM_001007226.1:c.1094del | NP_001007227.1:p.Gly365AspfsTer7 | |
| NM_001007227.1:c.1094del | NP_001007228.1:p.Gly365AspfsTer7 | |
| NM_001007228.1:c.1094del | NP_001007229.1:p.Gly365AspfsTer7 | |
| NM_001007229.1:c.1094del | NP_001007230.1:p.Gly365AspfsTer7 | |
| NM_001007230.1:c.1094del | NP_001007231.1:p.Gly365AspfsTer7 | |
| NM_003563.3:c.1094del | NP_003554.1:p.Gly365AspfsTer7 | |
| XM_005257723.3:c.1094del | XP_005257780.1:p.Gly365AspfsTer7 | |
| XM_005257724.3:c.1094del | XP_005257781.1:p.Gly365AspfsTer7 | |
| XM_005257723.4:c.1094del | XP_005257780.1:p.Gly365AspfsTer7 | |
| XM_005257724.4:c.1094del | XP_005257781.1:p.Gly365AspfsTer7 | |
| XM_017025204.1:c.1094del | XP_016880693.1:p.Gly365AspfsTer7 | |
| XM_024450995.1:c.1094del | XP_024306763.1:p.Gly365AspfsTer7 | |
| NM_001007228.2:c.1094del MANE Select | NP_001007229.1:p.Gly365AspfsTer7 | |
| NM_001370730.1:c.1094del | NP_001357659.1:p.Gly365AspfsTer7 | |
| NM_001370731.1:c.1094del | NP_001357660.1:p.Gly365AspfsTer7 | |
| NM_001370732.1:c.1094del | NP_001357661.1:p.Gly365AspfsTer7 |