ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78138136del , CM000679.2:g.78138136del | GRCh38 |
| NC_000017.10:g.76134217del , CM000679.1:g.76134217del | GRCh37 |
| NC_000017.9:g.73645812del | NCBI36 |
| NG_007881.1:g.12359del , LRG_119:g.12359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590184.2:n.1149del | ||
| ENST00000698566.1:n.1143del | ||
| ENST00000698567.1:n.1143del | ||
| ENST00000698568.1:n.1064del | ||
| ENST00000698569.1:n.903del | ||
| ENST00000698570.1:n.750del | ||
| ENST00000698571.1:n.419del | ||
| ENST00000698572.1:n.566del | ||
| ENST00000318430.10:c.1481del MANE Select | ENSP00000325561.4:p.Leu494ArgfsTer5 | |
| ENST00000318430.9:c.1481del | ENSP00000325561.4:p.Leu494ArgfsTer5 | |
| ENST00000589691.1:c.812del | ENSP00000467482.1:p.Leu271ArgfsTer5 | |
| ENST00000591003.1:n.293del | ||
| NM_152468.4:c.1481del , LRG_119t1:c.1481del | NP_689681.2:p.Leu494ArgfsTer5 | |
| XM_011524402.1:c.1493del | XP_011522704.1:p.Leu498ArgfsTer5 | |
| XM_011524403.1:c.1481del | XP_011522705.1:p.Leu494ArgfsTer5 | |
| XM_011524404.1:c.1493del | XP_011522706.1:p.Leu498ArgfsTer5 | |
| XM_011524405.1:c.1379del | XP_011522707.1:p.Leu460ArgfsTer5 | |
| XM_011524406.1:c.1376del | XP_011522708.1:p.Leu459ArgfsTer5 | |
| XM_011524407.1:c.824del | XP_011522709.1:p.Leu275ArgfsTer5 | |
| XM_011524408.1:c.824del | XP_011522710.1:p.Leu275ArgfsTer5 | |
| XR_934395.1:n.3802del | ||
| XR_934397.1:n.3767del | ||
| XR_934398.1:n.3774del | ||
| XR_934400.1:n.3678del | ||
| XM_017024242.2:c.632del | XP_016879731.1:p.Leu211ArgfsTer5 | |
| XM_017024243.1:c.812del | XP_016879732.1:p.Leu271ArgfsTer5 | |
| XM_024450617.1:c.1493del | XP_024306385.1:p.Leu498ArgfsTer5 | |
| XM_024450618.1:c.1493del | XP_024306386.1:p.Leu498ArgfsTer5 | |
| XM_024450619.1:c.1481del | XP_024306387.1:p.Leu494ArgfsTer5 | |
| XM_024450620.1:c.1493del | XP_024306388.1:p.Leu498ArgfsTer5 | |
| XM_024450621.1:c.1493del | XP_024306389.1:p.Leu498ArgfsTer5 | |
| XM_024450622.1:c.1493del | XP_024306390.1:p.Leu498ArgfsTer5 | |
| XM_024450623.1:c.1376del | XP_024306391.1:p.Leu459ArgfsTer5 | |
| XM_024450624.1:c.1458del | XP_024306392.1:p.Ala487LeufsTer? | |
| XR_002957973.1:n.1574del | ||
| XR_002957974.1:n.1539del | ||
| XR_002957975.1:n.1527del | ||
| XR_002957976.1:n.1546del | ||
| XR_002957977.1:n.1534del | ||
| XR_002957978.1:n.1581del | ||
| XR_002957979.1:n.1450del | ||
| NM_152468.5:c.1481del MANE Select | NP_689681.2:p.Leu494ArgfsTer5 |