ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89299860_89299861del , CM000677.2:g.89299860_89299861del | GRCh38 |
| NC_000015.9:g.89843091_89843092del , CM000677.1:g.89843091_89843092del | GRCh37 |
| NC_000015.8:g.87644095_87644096del | NCBI36 |
| NG_011736.1:g.60898_60899del , LRG_500:g.60898_60899del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.2418_2419del | ENSP00000512830.1:p.Lys807ArgfsTer? | |
| ENST00000696718.1:c.2160_2161del | ENSP00000512831.1:p.Lys721ArgfsTer? | |
| ENST00000696719.1:c.2697_2698del | ENSP00000512832.1:p.Lys900ArgfsTer? | |
| ENST00000696721.1:n.662_663del | ||
| ENST00000310775.12:c.2697_2698del MANE Select | ENSP00000310842.8:p.Lys900ArgfsTer? | |
| ENST00000674831.1:c.2697_2698del | ENSP00000502474.1:p.Lys900ArgfsTer? | |
| ENST00000676003.1:c.2655_2656del | ENSP00000502254.1:p.Lys886ArgfsTer? | |
| ENST00000300027.12:c.2517_2518del | ENSP00000300027.8:p.Lys840ArgfsTer? | |
| ENST00000310775.11:c.2697_2698del | ENSP00000310842.7:p.Lys900ArgfsTer? | |
| ENST00000447611.6:c.2517_2518del | ENSP00000413249.2:p.Lys840ArgfsTer? | |
| ENST00000561894.1:c.1996_1997del | ||
| ENST00000565522.5:n.130-13044_130-13043del | ||
| ENST00000566895.5:n.2704_2705del | ||
| NM_001113378.1:c.2697_2698del , LRG_500t1:c.2697_2698del | NP_001106849.1:p.Lys900ArgfsTer? | |
| NM_018193.2:c.2517_2518del | NP_060663.2:p.Lys840ArgfsTer? | |
| XM_011521756.1:c.2697_2698del | XP_011520058.1:p.Lys900ArgfsTer? | |
| XM_011521757.1:c.2697_2698del | XP_011520059.1:p.Lys900ArgfsTer? | |
| XM_011521758.1:c.2697_2698del | XP_011520060.1:p.Lys900ArgfsTer? | |
| XM_011521759.1:c.2697_2698del | XP_011520061.1:p.Lys900ArgfsTer? | |
| XM_011521760.1:c.2697_2698del | XP_011520062.1:p.Lys900ArgfsTer? | |
| XM_011521761.1:c.2697_2698del | XP_011520063.1:p.Lys900ArgfsTer? | |
| XM_011521762.1:c.2697_2698del | XP_011520064.1:p.Lys900ArgfsTer? | |
| XM_011521763.1:c.2655_2656del | XP_011520065.1:p.Lys886ArgfsTer? | |
| XM_011521764.1:c.2517_2518del | XP_011520066.1:p.Lys840ArgfsTer? | |
| XM_011521765.1:c.2418_2419del | XP_011520067.1:p.Lys807ArgfsTer? | |
| XM_011521766.1:c.2418_2419del | XP_011520068.1:p.Lys807ArgfsTer? | |
| XM_011521767.1:c.2418_2419del | XP_011520069.1:p.Lys807ArgfsTer? | |
| XM_011521768.1:c.2697_2698del | XP_011520070.1:p.Lys900ArgfsTer? | |
| XM_011521769.1:c.2352_2353del | XP_011520071.1:p.Lys785ArgfsTer? | |
| XM_011521756.2:c.2697_2698del | XP_011520058.1:p.Lys900ArgfsTer? | |
| XM_011521757.2:c.2697_2698del | XP_011520059.1:p.Lys900ArgfsTer? | |
| XM_011521764.2:c.2517_2518del | XP_011520066.1:p.Lys840ArgfsTer? | |
| XM_011521767.2:c.2418_2419del | XP_011520069.1:p.Lys807ArgfsTer? | |
| NM_001113378.2:c.2697_2698del MANE Select | NP_001106849.1:p.Lys900ArgfsTer? | |
| NM_001376910.1:c.2418_2419del | NP_001363839.1:p.Lys807ArgfsTer? | |
| NM_001376911.1:c.2697_2698del | NP_001363840.1:p.Lys900ArgfsTer? | |
| NM_018193.3:c.2517_2518del | NP_060663.2:p.Lys840ArgfsTer? |