gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157665_16157667del , CM000678.2:g.16157665_16157667del | GRCh38 |
| NC_000016.9:g.16251522_16251524del , CM000678.1:g.16251522_16251524del | GRCh37 |
| NC_000016.8:g.16159023_16159025del | NCBI36 |
| NG_007558.2:g.70807_70809del | |
| NG_007558.3:g.70953_70955del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3880_3882del | ENSP00000483331.2:p.Lys1294del | |
| ENST00000205557.12:c.3880_3882del MANE Select | ENSP00000205557.7:p.Lys1294del | |
| ENST00000640696.1:c.694_696del | ENSP00000492197.1:p.Lys232del | |
| ENST00000205557.11:c.3880_3882del | ENSP00000205557.7:p.Lys1294del | |
| ENST00000456970.6:c.3505_3507del | ENSP00000405002.2:n.3505_3507del | |
| ENST00000622290.4:c.*1089_*1091del | ENSP00000483331.1:n.*1089_*1091del | |
| NM_001171.5:c.3880_3882del | NP_001162.4:p.Lys1294del | |
| XM_011522479.1:c.3847_3849del | XP_011520781.1:p.Lys1283del | |
| XM_011522480.1:c.3538_3540del | XP_011520782.1:p.Lys1180del | |
| XM_011522481.1:c.3538_3540del | XP_011520783.1:p.Lys1180del | |
| XR_932836.1:n.4115_4117del | ||
| XR_932837.1:n.3916_3918del | ||
| XR_932838.1:n.3916_3918del | ||
| XR_933134.1:n.539-2116_539-2114del | ||
| NM_001351800.1:c.3538_3540del | NP_001338729.1:p.Lys1180del | |
| NR_147784.1:n.3542_3544del | ||
| XM_011522479.2:c.3847_3849del | XP_011520781.1:p.Lys1283del | |
| XM_011522481.3:c.3538_3540del | XP_011520783.1:p.Lys1180del | |
| XM_017023212.1:c.3712_3714del | XP_016878701.1:p.Lys1238del | |
| XM_024450261.1:c.3916_3918del | XP_024306029.1:p.Lys1306del | |
| XR_932836.2:n.4061_4063del | ||
| XR_932837.3:n.3861_3863del | ||
| XR_932838.3:n.3861_3863del | ||
| NM_001171.6:c.3880_3882del MANE Select | NP_001162.5:p.Lys1294del |