ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231203677_231211238del , CM000664.2:g.231203677_231211238del | GRCh38 |
| NC_000002.11:g.232068390_232075951del , CM000664.1:g.232068390_232075951del | GRCh37 |
| NC_000002.10:g.231776634_231784195del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436339.6:c.-41-2521_177+2986del | ||
| ENST00000440107.6:c.-41-2521_177+2986del | ||
| ENST00000482392.2:n.64-2521_281+2986del | ||
| ENST00000682002.1:c.-39-2523_177+2986del | ||
| ENST00000682027.1:n.69-2521_286+2986del | ||
| ENST00000682030.1:c.-41-2521_177+2986del | ||
| ENST00000682100.1:c.-41-2521_177+2986del | ||
| ENST00000682233.1:n.271-2521_488+2986del | ||
| ENST00000682264.1:c.-41-2521_177+2986del | ||
| ENST00000682334.1:c.-41-2521_177+2986del | ||
| ENST00000682367.1:c.-41-2521_177+2986del | ||
| ENST00000682751.1:n.267-2521_484+2986del | ||
| ENST00000683040.1:c.-41-2521_177+2986del | ||
| ENST00000683063.1:c.-41-2521_52-3593del | ||
| ENST00000683107.1:n.57-2521_274+2986del | ||
| ENST00000683112.1:c.-41-2521_177+2986del | ||
| ENST00000683165.1:n.106-2521_323+2986del | ||
| ENST00000683271.1:c.-41-2521_177+2986del | ||
| ENST00000683275.1:c.-41-2521_177+2986del | ||
| ENST00000683321.1:c.-152-1967_177+2986del | ||
| ENST00000683553.1:c.-41-2521_177+2986del | ||
| ENST00000683575.1:c.-41-2521_177+2986del | ||
| ENST00000683629.1:c.-39-2523_177+2986del | ||
| ENST00000683702.1:c.-41-2521_177+2986del | ||
| ENST00000683814.1:n.271-2521_488+2986del | ||
| ENST00000683966.1:c.-41-2521_177+2986del | ||
| ENST00000684011.1:n.65-2521_282+2986del | ||
| ENST00000684051.1:c.-41-2521_177+2986del | ||
| ENST00000684368.1:c.-41-2521_177+2986del | ||
| ENST00000684432.1:c.-39-2523_177+2986del | ||
| ENST00000684565.1:c.-41-2521_177+2986del | ||
| ENST00000684718.1:c.-41-2521_177+2986del | ||
| ENST00000611582.5:c.-41-2521_177+2986del | ||
| ENST00000349938.8:c.-41-2521_177+2986del | ||
| ENST00000440107.5:c.-41-2521_177+2986del | ||
| ENST00000482392.1:n.57-2521_274+2986del | ||
| ENST00000614261.4:c.-39-2523_177+2986del | ||
| NM_001291656.1:c.-39-2523_177+2986del | ||
| NM_025139.5:c.-41-2521_177+2986del | ||
| XM_011511905.1:c.-41-2521_177+2986del | ||
| XM_011511906.1:c.-41-2521_177+2986del | ||
| XM_011511907.1:c.-41-2521_177+2986del | ||
| XM_011511908.1:c.-41-2521_177+2986del | ||
| XM_011511909.1:c.-41-2521_177+2986del | ||
| XM_011511910.1:c.-41-2521_177+2986del | ||
| XM_011511911.1:c.-41-2521_177+2986del | ||
| XM_011511912.1:c.-41-2521_177+2986del | ||
| XM_011511913.1:c.-41-2521_177+2986del | ||
| XM_011511914.1:c.-41-2521_177+2986del | ||
| XM_011511915.1:c.-41-2521_177+2986del | ||
| XM_011511916.1:c.-41-2521_177+2986del | ||
| XM_011511917.1:c.-41-2521_177+2986del | ||
| XM_011511918.1:c.-41-2521_177+2986del | ||
| XM_011511920.1:c.-41-2521_177+2986del | ||
| XR_923031.1:n.72-2521_289+2986del | ||
| XR_923032.1:n.72-2521_289+2986del | ||
| NM_001271466.3:c.-41-2521_177+2986del | ||
| NM_001352754.1:c.-41-2521_177+2986del | ||
| NM_001352755.1:c.-41-2521_177+2986del | ||
| NM_001352756.1:c.-41-2521_177+2986del | ||
| NM_001352757.1:c.-41-2521_177+2986del | ||
| NM_001352758.1:c.-39-2523_177+2986del | ||
| NM_001352759.1:c.-41-2521_177+2986del | ||
| NR_148040.1:n.154-2521_371+2986del | ||
| XM_011511908.2:c.-41-2521_177+2986del | ||
| XM_011511909.2:c.-41-2521_177+2986del | ||
| XM_011511913.2:c.-41-2521_177+2986del | ||
| XM_011511914.2:c.-41-2521_177+2986del | ||
| XM_011511915.2:c.-41-2521_177+2986del | ||
| XM_011511916.2:c.-41-2521_177+2986del | ||
| XM_017005021.1:c.-41-2521_177+2986del | ||
| XM_017005022.1:c.-41-2521_177+2986del | ||
| XM_017005024.1:c.-41-2521_177+2986del | ||
| XM_017005025.1:c.-41-2521_177+2986del | ||
| NM_001271466.4:c.-41-2521_177+2986del | ||
| NM_001291656.2:c.-39-2523_177+2986del | ||
| NM_001352754.2:c.-41-2521_177+2986del | ||
| NM_001352755.2:c.-41-2521_177+2986del | ||
| NM_001352756.2:c.-41-2521_177+2986del | ||
| NM_001352757.2:c.-41-2521_177+2986del | ||
| NM_001352758.2:c.-39-2523_177+2986del | ||
| NM_001352759.2:c.-41-2521_177+2986del | ||
| NM_025139.6:c.-41-2521_177+2986del | ||
| NR_148040.2:n.69-2521_286+2986del |