gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026025 (EAS)
Genomes Max Group AF
0.00006811 (EAS)
Exomes Max Group AF
0.00025438 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65084291del , CM000676.2:g.65084291del | GRCh38 |
| NC_000014.8:g.65551009del , CM000676.1:g.65551009del | GRCh37 |
| NC_000014.7:g.64620762del | NCBI36 |
| NG_029830.1:g.23220del , LRG_530:g.23220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.-48-6254del | ENSP00000452206.2:n.-48-6254del | |
| ENST00000556979.6:c.172-6254del | ENSP00000452378.1:n.172-6254del | |
| ENST00000358664.9:c.172-6254del MANE Select | ENSP00000351490.4:n.172-6254del | |
| ENST00000651648.1:c.144+9418del | ENSP00000498863.1:n.144+9418del | |
| ENST00000246163.2:c.181del | ENSP00000246163.2:p.Leu61SerfsTer15 | |
| ENST00000284165.10:c.172-6254del | ENSP00000284165.6:n.172-6254del | |
| ENST00000341653.6:c.171+9418del | ENSP00000342482.2:n.171+9418del | |
| ENST00000358402.8:c.145-6254del | ENSP00000351175.4:n.145-6254del | |
| ENST00000358664.8:c.172-6254del | ENSP00000351490.4:n.172-6254del | |
| ENST00000394606.6:c.172-6254del | ENSP00000378104.2:n.172-6254del | |
| ENST00000553928.5:c.172-6254del | ENSP00000451907.1:n.172-6254del | |
| ENST00000553951.1:n.249-6254del | ||
| ENST00000555419.5:c.64-6254del | ENSP00000452405.1:n.64-6254del | |
| ENST00000555667.5:c.145-6254del | ENSP00000452286.1:n.145-6254del | |
| ENST00000555932.5:c.37-7627del | ENSP00000450763.1:n.37-7627del | |
| ENST00000556443.5:c.145-6254del | ENSP00000450818.1:n.145-6254del | |
| ENST00000556892.5:c.-48-6254del | ENSP00000452206.1:n.-48-6254del | |
| ENST00000556979.5:c.172-6254del | ENSP00000452378.1:n.172-6254del | |
| ENST00000557277.5:c.-103-6254del | ENSP00000450955.1:n.-103-6254del | |
| ENST00000557746.5:c.145-6254del | ENSP00000452197.1:n.145-6254del | |
| ENST00000618858.4:c.172-6254del | ENSP00000480127.1:n.172-6254del | |
| NM_001271068.1:c.154del | NP_001257997.1:p.Leu52SerfsTer15 | |
| NM_001271069.1:c.144+9418del | NP_001257998.1:n.144+9418del | |
| NM_002382.4:c.172-6254del | NP_002373.3:n.172-6254del | |
| NM_145112.2:c.145-6254del | NP_660087.1:n.145-6254del | |
| NM_145113.2:c.172-6254del | NP_660088.1:n.172-6254del | |
| NM_145114.2:c.181del | NP_660089.1:p.Leu61SerfsTer15 | |
| NM_197957.3:c.171+9418del | NP_932061.1:n.171+9418del | |
| NR_073137.1:n.296-6254del | ||
| NR_073138.1:n.305del | ||
| XM_011536773.1:c.172-6254del | XP_011535075.1:n.172-6254del | |
| XR_429315.2:n.374-6254del | ||
| XR_943450.1:n.374-6254del | ||
| XR_943451.1:n.374-6254del | ||
| XR_943452.1:n.336-6254del | ||
| NM_001320415.1:c.-103-6254del | NP_001307344.1:n.-103-6254del | |
| XM_011536773.3:c.172-6254del | XP_011535075.1:n.172-6254del | |
| XM_017021312.2:c.-103-6254del | XP_016876801.1:n.-103-6254del | |
| XM_017021313.1:c.-103-6254del | XP_016876802.1:n.-103-6254del | |
| XR_001750326.2:n.335-6254del | ||
| XR_001750327.2:n.335-6254del | ||
| XR_002957553.1:n.365-6254del | ||
| XR_943450.3:n.374-6254del | ||
| XR_943451.3:n.374-6254del | ||
| XR_943452.3:n.335-6254del | ||
| NM_001320415.2:c.-103-6254del | NP_001307344.1:n.-103-6254del | |
| NM_002382.5:c.172-6254del MANE Select | NP_002373.3:n.172-6254del | |
| NM_145112.3:c.145-6254del | NP_660087.1:n.145-6254del | |
| NM_145113.3:c.172-6254del | NP_660088.1:n.172-6254del | |
| NM_001271068.2:c.154del | NP_001257997.1:p.Leu52SerfsTer15 | |
| NM_001271069.2:c.144+9418del | NP_001257998.1:n.144+9418del | |
| NM_145114.3:c.181del | NP_660089.1:p.Leu61SerfsTer15 | |
| NM_197957.4:c.171+9418del | NP_932061.1:n.171+9418del |