ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
2.8e-7 (NFE)
Exomes Max Group AF
3e-7 (NFE)
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133424439_133424467del , CM000671.2:g.133424439_133424467del | GRCh38 |
| NC_000009.10:g.135279380_135279408del | NCBI36 |
| NG_011934.2:g.15101_15129del , LRG_544:g.15101_15129del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.291_319del MANE Select | ENSP00000347927.2:p.Glu98ProfsTer? | |
| ENST00000355699.6:c.291_319del | ENSP00000347927.2:p.Glu98ProfsTer? | |
| ENST00000356589.6:c.291_319del | ENSP00000348997.2:p.Glu98ProfsTer? | |
| ENST00000371911.7:c.291_319del | ENSP00000360979.3:p.Glu98ProfsTer? | |
| ENST00000371916.5:c.-454_-426del | ENSP00000360984.2:n.-454_-426del | |
| ENST00000371929.7:c.291_319del | ENSP00000360997.3:p.Glu98ProfsTer? | |
| ENST00000474918.1:c.291_319del | ENSP00000435305.1:p.Glu98ProfsTer? | |
| ENST00000485925.5:n.473_501del | ||
| ENST00000495234.5:c.291_319del | ENSP00000435274.1:p.Glu98ProfsTer? | |
| NM_139025.4:c.291_319del , LRG_544t1:c.291_319del | NP_620594.1:p.Glu98ProfsTer? | |
| NM_139026.4:c.291_319del | NP_620595.1:p.Glu98ProfsTer? | |
| NM_139027.4:c.291_319del | NP_620596.2:p.Glu98ProfsTer? | |
| NR_024514.2:n.492_520del | ||
| XM_011518174.1:c.-100_-72del | XP_011516476.1:n.-100_-72del | |
| XM_011518175.1:c.291_319del | XP_011516477.1:p.Glu98ProfsTer? | |
| XM_011518180.1:c.291_319del | XP_011516482.1:p.Glu98ProfsTer? | |
| XM_017014232.1:c.279_307del | XP_016869721.1:p.Glu94ProfsTer? | |
| XM_017014233.1:c.-100_-72del | XP_016869722.1:n.-100_-72del | |
| XM_017014235.1:c.291_319del | XP_016869724.1:p.Glu98ProfsTer? | |
| XR_001746171.1:n.1516_1544del | ||
| NM_139026.5:c.291_319del | NP_620595.1:p.Glu98ProfsTer? | |
| NM_139027.5:c.291_319del | NP_620596.2:p.Glu98ProfsTer? | |
| NM_139025.5:c.291_319del | NP_620594.1:p.Glu98ProfsTer? | |
| NM_139026.6:c.291_319del | NP_620595.1:p.Glu98ProfsTer? | |
| NM_139027.6:c.291_319del MANE Select | NP_620596.2:p.Glu98ProfsTer? | |
| NR_024514.3:n.494_522del |