gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39906761_39906762del , CM000668.2:g.39906761_39906762del | GRCh38 |
| NC_000006.11:g.39874537_39874538del , CM000668.1:g.39874537_39874538del | GRCh37 |
| NC_000006.10:g.39982515_39982516del | NCBI36 |
| NG_009297.1:g.32719_32720del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.1508_1509del MANE Select | ENSP00000344794.5:p.Glu503AlafsTer? | |
| ENST00000645522.1:n.1661_1662del | ||
| ENST00000340692.9:c.1508_1509del | ENSP00000344794.5:p.Glu503AlafsTer? | |
| ENST00000373181.8:c.842-2498_842-2497del | ENSP00000362277.4:n.842-2498_842-2497del | |
| ENST00000373186.8:c.*365_*366del | ENSP00000362282.4:n.*365_*366del | |
| ENST00000373188.6:c.*365_*366del | ENSP00000362284.2:n.*365_*366del | |
| ENST00000373195.7:c.1199_1200del | ENSP00000362291.3:p.Glu400AlafsTer? | |
| ENST00000425303.6:c.1508_1509del | ENSP00000416478.2:p.Glu503AlafsTer? | |
| NM_001075098.3:c.*365_*366del | NP_001068566.1:n.*365_*366del | |
| NM_005943.5:c.*365_*366del | NP_005934.2:n.*365_*366del | |
| NR_033233.1:n.1467_1468del | ||
| XM_011514632.1:c.1508_1509del | XP_011512934.1:p.Glu503AlafsTer? | |
| XM_011514633.1:c.1460_1461del | XP_011512935.1:p.Glu487AlafsTer? | |
| XM_011514634.1:c.1247_1248del | XP_011512936.1:p.Glu416AlafsTer? | |
| XM_011514635.1:c.1150+2295_1150+2296del | XP_011512937.1:n.1150+2295_1150+2296del | |
| XR_926225.1:n.1553_1554del | ||
| NM_001358529.1:c.1460_1461del | NP_001345458.1:p.Glu487AlafsTer? | |
| NM_001358530.1:c.1508_1509del | NP_001345459.1:p.Glu503AlafsTer? | |
| NM_001358531.1:c.1247_1248del | NP_001345460.1:p.Glu416AlafsTer? | |
| NM_001358533.1:c.*365_*366del | NP_001345462.1:n.*365_*366del | |
| NM_001358534.1:c.*365_*366del | NP_001345463.1:n.*365_*366del | |
| NM_001358530.2:c.1508_1509del MANE Select | NP_001345459.1:p.Glu503AlafsTer? | |
| NM_001075098.4:c.*365_*366del | NP_001068566.1:n.*365_*366del | |
| NM_001358529.2:c.1460_1461del | NP_001345458.1:p.Glu487AlafsTer? | |
| NM_001358531.2:c.1247_1248del | NP_001345460.1:p.Glu416AlafsTer? | |
| NM_001358533.2:c.*365_*366del | NP_001345462.1:n.*365_*366del | |
| NR_033233.2:n.1378_1379del | ||
| NM_001358534.2:c.*365_*366del | NP_001345463.1:n.*365_*366del | |
| NM_005943.6:c.*365_*366del | NP_005934.2:n.*365_*366del |