ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014949 (NFE)
Genomes Max Group AF
0.00007908 (NFE)
Exomes Max Group AF
0.00014975 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8229442del , CM000679.2:g.8229442del | GRCh38 |
| NC_000017.10:g.8132760del , CM000679.1:g.8132760del | GRCh37 |
| NC_000017.9:g.8073485del | NCBI36 |
| NG_032148.1:g.23657del | |
| NG_032148.2:g.23657del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3019del | ENSP00000462607.2:p.Leu1007CysfsTer? | |
| ENST00000581729.2:c.3019del | ENSP00000462720.2:p.Leu1007CysfsTer? | |
| ENST00000581967.2:n.3471del | ||
| ENST00000699849.1:c.2122del | ENSP00000514647.1:p.Leu708CysfsTer? | |
| ENST00000699850.1:n.2607del | ||
| ENST00000699851.1:n.3810del | ||
| ENST00000699852.1:c.*1597del | ENSP00000514648.1:n.*1597del | |
| ENST00000699853.1:c.3019del | ENSP00000514649.1:p.Leu1007CysfsTer? | |
| ENST00000699854.1:n.3137del | ||
| ENST00000699855.1:n.3796del | ||
| ENST00000699856.1:c.*33del | ENSP00000514650.1:n.*33del | |
| ENST00000699857.1:n.3254del | ||
| ENST00000699858.1:c.*1957del | ENSP00000514651.1:n.*1957del | |
| ENST00000699859.1:c.2890del | ENSP00000514652.1:p.Leu964CysfsTer? | |
| ENST00000699860.1:n.1256del | ||
| ENST00000699861.1:n.3041del | ||
| ENST00000449476.7:c.2914del | ENSP00000396018.2:p.Leu972CysfsTer? | |
| ENST00000581671.2:n.3008del | ||
| ENST00000643543.1:c.*1726del | ENSP00000494323.1:n.*1726del | |
| ENST00000651323.1:c.3019del MANE Select | ENSP00000498499.1:p.Leu1007CysfsTer? | |
| ENST00000315684.12:c.3019del | ENSP00000313759.8:p.Leu1007CysfsTer? | |
| ENST00000449476.6:c.2914del | ENSP00000396018.2:p.Leu972CysfsTer? | |
| ENST00000578240.1:n.1572del | ||
| ENST00000578441.5:n.376del | ||
| ENST00000578537.1:c.675del | ||
| ENST00000580299.1:c.190del | ENSP00000462607.1:p.Leu64CysfsTer? | |
| NM_025099.5:c.3019del | NP_079375.3:p.Leu1007CysfsTer? | |
| NR_046431.1:n.2973del | ||
| XM_006721577.2:c.2890del | XP_006721640.1:p.Leu964CysfsTer? | |
| XM_006721578.2:c.3019del | XP_006721641.1:p.Leu1007CysfsTer? | |
| XM_006721579.2:c.*33del | XP_006721642.1:n.*33del | |
| XM_011524010.1:c.2914del | XP_011522312.1:p.Leu972CysfsTer? | |
| XM_011524011.1:c.2122del | XP_011522313.1:p.Leu708CysfsTer? | |
| XR_429823.2:n.3062del | ||
| XR_429824.2:n.3062del | ||
| XR_429825.1:n.2868del | ||
| NM_025099.6:c.3019del MANE Select | NP_079375.3:p.Leu1007CysfsTer? | |
| XM_006721577.3:c.2890del | XP_006721640.1:p.Leu964CysfsTer? | |
| XM_006721578.3:c.3019del | XP_006721641.1:p.Leu1007CysfsTer? | |
| XM_011524010.2:c.2914del | XP_011522312.1:p.Leu972CysfsTer? | |
| XM_011524011.2:c.2122del | XP_011522313.1:p.Leu708CysfsTer? | |
| XR_001752639.1:n.2933del | ||
| XR_001752640.1:n.3016del | ||
| XR_001752641.1:n.3016del | ||
| XR_001752642.1:n.2868del | ||
| XR_001752643.1:n.3492del | ||
| XR_002958073.1:n.2868del | ||
| XR_429823.3:n.3062del | ||
| XR_429824.3:n.3062del | ||
| NR_046431.2:n.2934del |