gnomAD v4:
Joint Max Group AF
0.00001804 (NFE)
Exomes Max Group AF
0.00001915 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117595022del , CM000669.2:g.117595022del | GRCh38 |
| NC_000007.13:g.117235076del , CM000669.1:g.117235076del | GRCh37 |
| NC_000007.12:g.117022312del | NCBI36 |
| NG_016465.4:g.134239del , LRG_663:g.134239del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2583del | ENSP00000497673.2:p.Phe861LeufsTer3 | |
| ENST00000647978.2:c.*2297del | ENSP00000497658.1:n.*2297del | |
| ENST00000649781.2:c.2400del | ENSP00000497203.1:p.Phe800LeufsTer3 | |
| ENST00000685018.2:c.2583del | ENSP00000510194.2:p.Phe861LeufsTer3 | |
| ENST00000687278.2:c.2583del | ENSP00000509593.2:p.Phe861LeufsTer3 | |
| ENST00000699585.1:c.2583del | ENSP00000514456.1:p.Phe861LeufsTer3 | |
| ENST00000699598.1:c.2583del | ENSP00000514467.1:p.Phe861LeufsTer3 | |
| ENST00000699599.1:c.2583del | ENSP00000514468.1:p.Phe861LeufsTer3 | |
| ENST00000699600.1:c.2583del | ENSP00000514469.1:p.Phe861LeufsTer3 | |
| ENST00000699601.1:c.*883del | ENSP00000514470.1:n.*883del | |
| ENST00000699602.1:c.2583del | ENSP00000514471.1:p.Phe861LeufsTer3 | |
| ENST00000699604.1:c.*2407del | ENSP00000514472.1:n.*2407del | |
| ENST00000699605.1:c.2157del | ENSP00000514473.1:p.Phe719LeufsTer3 | |
| ENST00000687278.1:c.174del | ENSP00000509593.1:p.Phe58LeufsTer3 | |
| ENST00000003084.11:c.2583del MANE Select | ENSP00000003084.6:p.Phe861LeufsTer3 | |
| ENST00000647720.1:c.233del | ||
| ENST00000648260.1:c.1402-7804del | ENSP00000497957.1:n.1402-7804del | |
| ENST00000649406.1:c.2400del | ENSP00000497965.1:p.Phe800LeufsTer3 | |
| ENST00000649781.1:c.2400del | ENSP00000497203.1:p.Phe800LeufsTer3 | |
| ENST00000003084.10:c.2583del | ENSP00000003084.6:p.Phe861LeufsTer3 | |
| ENST00000426809.5:c.2493del | ENSP00000389119.1:p.Phe831LeufsTer3 | |
| NM_000492.3:c.2583del , LRG_663t1:c.2583del | NP_000483.3:p.Phe861LeufsTer3 | |
| XM_011515751.1:c.2673del | XP_011514053.1:p.Phe891LeufsTer3 | |
| XM_011515752.1:c.2673del | XP_011514054.1:p.Phe891LeufsTer3 | |
| XM_011515753.1:c.2340del | XP_011514055.1:p.Phe780LeufsTer3 | |
| XM_011515754.1:c.2340del | XP_011514056.1:p.Phe780LeufsTer3 | |
| NM_000492.4:c.2583del MANE Select | NP_000483.3:p.Phe861LeufsTer3 |