ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00002632 (NFE)
Genomes Max Group AF
0.0000153 (NFE)
Exomes Max Group AF
0.00002527 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030622_154030657del , CM000685.2:g.154030622_154030657del | GRCh38 |
| NC_000023.10:g.153296073_153296108del , CM000685.1:g.153296073_153296108del | GRCh37 |
| NC_000023.9:g.152949267_152949302del | NCBI36 |
| NG_007107.2:g.111480_111515del | |
| NG_007107.3:g.111456_111491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1180_1215del MANE Plus Clinical | ENSP00000301948.6:p.Glu394_Pro405del | |
| ENST00000453960.7:c.1216_1251del MANE Select | ENSP00000395535.2:p.Glu406_Pro417del | |
| ENST00000303391.10:c.1180_1215del | ENSP00000301948.6:p.Glu394_Pro405del | |
| ENST00000407218.5:c.*552_*587del | ENSP00000384865.2:n.*552_*587del | |
| ENST00000453960.6:c.1216_1251del | ENSP00000395535.2:p.Glu406_Pro417del | |
| ENST00000619732.4:c.1180_1215del | ENSP00000480973.1:p.Glu394_Pro405del | |
| ENST00000628176.2:c.*552_*587del | ENSP00000486978.1:n.*552_*587del | |
| NM_001110792.1:c.1216_1251del | NP_001104262.1:p.Glu406_Pro417del | |
| NM_001316337.1:c.901_936del | NP_001303266.1:p.Glu301_Pro312del | |
| NM_004992.3:c.1180_1215del | NP_004983.1:p.Glu394_Pro405del | |
| XM_005274681.3:c.1180_1215del | XP_005274738.1:p.Glu394_Pro405del | |
| XM_005274682.3:c.901_936del | XP_005274739.1:p.Glu301_Pro312del | |
| XM_005274683.3:c.901_936del | XP_005274740.1:p.Glu301_Pro312del | |
| XM_006724819.2:c.511_546del | XP_006724882.1:p.Glu171_Pro182del | |
| XM_011531166.1:c.901_936del | XP_011529468.1:p.Glu301_Pro312del | |
| XM_006724819.3:c.511_546del | XP_006724882.1:p.Glu171_Pro182del | |
| XM_011531166.2:c.901_936del | XP_011529468.1:p.Glu301_Pro312del | |
| XM_024452383.1:c.901_936del | XP_024308151.1:p.Glu301_Pro312del | |
| XM_024452384.1:c.901_936del | XP_024308152.1:p.Glu301_Pro312del | |
| NM_001110792.2:c.1216_1251del MANE Select | NP_001104262.1:p.Glu406_Pro417del | |
| NM_001316337.2:c.901_936del | NP_001303266.1:p.Glu301_Pro312del | |
| NM_001369391.2:c.901_936del | NP_001356320.1:p.Glu301_Pro312del | |
| NM_001369392.2:c.901_936del | NP_001356321.1:p.Glu301_Pro312del | |
| NM_001369393.2:c.901_936del | NP_001356322.1:p.Glu301_Pro312del | |
| NM_001369394.1:c.901_936del | NP_001356323.1:p.Glu301_Pro312del | |
| NM_001369394.2:c.901_936del | NP_001356323.1:p.Glu301_Pro312del | |
| NM_001386137.1:c.511_546del | NP_001373066.1:p.Glu171_Pro182del | |
| NM_001386138.1:c.511_546del | NP_001373067.1:p.Glu171_Pro182del | |
| NM_001386139.1:c.511_546del | NP_001373068.1:p.Glu171_Pro182del | |
| NM_004992.4:c.1180_1215del MANE Plus Clinical | NP_004983.1:p.Glu394_Pro405del |