gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33021625_33021626del , CM000665.2:g.33021625_33021626del | GRCh38 |
| NC_000003.11:g.33063117_33063118del , CM000665.1:g.33063117_33063118del | GRCh37 |
| NC_000003.10:g.33038121_33038122del | NCBI36 |
| NG_009005.1:g.80578_80579del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1174_1175del MANE Select | ENSP00000306920.4:p.Leu392ValfsTer? | |
| ENST00000307363.9:c.1174_1175del | ENSP00000306920.4:p.Leu392ValfsTer? | |
| ENST00000307377.12:c.781_782del | ENSP00000305920.8:p.Leu261ValfsTer? | |
| ENST00000399402.7:c.1084_1085del | ENSP00000382333.2:p.Leu362ValfsTer? | |
| ENST00000461475.5:n.273_274del | ||
| ENST00000467571.5:n.211_212del | ||
| ENST00000473477.1:n.206_207del | ||
| ENST00000497796.5:n.426_427del | ||
| NM_000404.2:c.1174_1175del | NP_000395.2:p.Leu392ValfsTer? | |
| NM_000404.3:c.1174_1175del | NP_000395.2:p.Leu392ValfsTer? | |
| NM_001079811.1:c.1084_1085del | NP_001073279.1:p.Leu362ValfsTer? | |
| NM_001079811.2:c.1084_1085del | NP_001073279.1:p.Leu362ValfsTer? | |
| NM_001135602.1:c.781_782del | NP_001129074.1:p.Leu261ValfsTer? | |
| NM_001135602.2:c.781_782del | NP_001129074.1:p.Leu261ValfsTer? | |
| NM_001317040.1:c.1318_1319del | NP_001303969.1:p.Leu440ValfsTer? | |
| XR_001740634.1:n.1543-563_1543-562del | ||
| NM_000404.4:c.1174_1175del MANE Select | NP_000395.3:p.Leu392ValfsTer? | |
| NM_001079811.3:c.1084_1085del | NP_001073279.2:p.Leu362ValfsTer? | |
| NM_001135602.3:c.781_782del | NP_001129074.2:p.Leu261ValfsTer? | |
| NM_001317040.2:c.1318_1319del | NP_001303969.2:p.Leu440ValfsTer? | |
| NM_001393580.1:c.1174_1175del | NP_001380509.1:p.Leu392ValfsTer? |