Linked Data
ClinVar Variation Id:
317265
ClinVar RCV Id:
RCV000328875
dbSNP Id:
rs751881445
ExAC:
15:89807272 TTG / T
gnomAD v2:
15-89807272-TTG-T
gnomAD v3:
15-89264041-TTG-T
gnomAD v4:
15-89264041-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89264043_89264044del , CM000677.2:g.89264043_89264044del | GRCh38 |
| NC_000015.9:g.89807274_89807275del , CM000677.1:g.89807274_89807275del | GRCh37 |
| NC_000015.8:g.87608278_87608279del | NCBI36 |
| NG_011736.1:g.25081_25082del , LRG_500:g.25081_25082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.390+17_390+18del | ENSP00000512830.1:n.390+17_390+18del | |
| ENST00000696718.1:c.132+17_132+18del | ENSP00000512831.1:n.132+17_132+18del | |
| ENST00000696719.1:c.669+17_669+18del | ENSP00000512832.1:n.669+17_669+18del | |
| ENST00000310775.12:c.669+17_669+18del MANE Select | ENSP00000310842.8:n.669+17_669+18del | |
| ENST00000674831.1:c.669+17_669+18del | ENSP00000502474.1:n.669+17_669+18del | |
| ENST00000676003.1:c.669+17_669+18del | ENSP00000502254.1:n.669+17_669+18del | |
| ENST00000300027.12:c.669+17_669+18del | ENSP00000300027.8:n.669+17_669+18del | |
| ENST00000310775.11:c.669+17_669+18del | ENSP00000310842.7:n.669+17_669+18del | |
| ENST00000447611.6:c.669+17_669+18del | ENSP00000413249.2:n.669+17_669+18del | |
| ENST00000561894.1:c.148+17_148+18del | ||
| ENST00000565522.5:n.129+16317_129+16318del | ||
| ENST00000567996.5:c.669+17_669+18del | ENSP00000458024.1:n.669+17_669+18del | |
| ENST00000570225.5:c.207+17_207+18del | ENSP00000454669.1:n.207+17_207+18del | |
| NM_001113378.1:c.669+17_669+18del , LRG_500t1:c.669+17_669+18del | NP_001106849.1:n.669+17_669+18del | |
| NM_018193.2:c.669+17_669+18del | NP_060663.2:n.669+17_669+18del | |
| XM_011521756.1:c.669+17_669+18del | XP_011520058.1:n.669+17_669+18del | |
| XM_011521757.1:c.669+17_669+18del | XP_011520059.1:n.669+17_669+18del | |
| XM_011521758.1:c.669+17_669+18del | XP_011520060.1:n.669+17_669+18del | |
| XM_011521759.1:c.669+17_669+18del | XP_011520061.1:n.669+17_669+18del | |
| XM_011521760.1:c.669+17_669+18del | XP_011520062.1:n.669+17_669+18del | |
| XM_011521761.1:c.669+17_669+18del | XP_011520063.1:n.669+17_669+18del | |
| XM_011521762.1:c.669+17_669+18del | XP_011520064.1:n.669+17_669+18del | |
| XM_011521763.1:c.669+17_669+18del | XP_011520065.1:n.669+17_669+18del | |
| XM_011521764.1:c.669+17_669+18del | XP_011520066.1:n.669+17_669+18del | |
| XM_011521765.1:c.390+17_390+18del | XP_011520067.1:n.390+17_390+18del | |
| XM_011521766.1:c.390+17_390+18del | XP_011520068.1:n.390+17_390+18del | |
| XM_011521767.1:c.390+17_390+18del | XP_011520069.1:n.390+17_390+18del | |
| XM_011521768.1:c.669+17_669+18del | XP_011520070.1:n.669+17_669+18del | |
| XM_011521769.1:c.669+17_669+18del | XP_011520071.1:n.669+17_669+18del | |
| XM_011521756.2:c.669+17_669+18del | XP_011520058.1:n.669+17_669+18del | |
| XM_011521757.2:c.669+17_669+18del | XP_011520059.1:n.669+17_669+18del | |
| XM_011521764.2:c.669+17_669+18del | XP_011520066.1:n.669+17_669+18del | |
| XM_011521767.2:c.390+17_390+18del | XP_011520069.1:n.390+17_390+18del | |
| NM_001113378.2:c.669+17_669+18del MANE Select | NP_001106849.1:n.669+17_669+18del | |
| NM_001376910.1:c.390+17_390+18del | NP_001363839.1:n.390+17_390+18del | |
| NM_001376911.1:c.669+17_669+18del | NP_001363840.1:n.669+17_669+18del | |
| NM_018193.3:c.669+17_669+18del | NP_060663.2:n.669+17_669+18del |