Linked Data
ClinVar Variation Id:
1390483
ClinVar RCV Id:
RCV001891023
dbSNP Id:
rs758624653
ExAC:
15:55516113 TTCC / T
gnomAD v2:
15-55516113-TTCC-T
gnomAD v4:
15-55223915-TTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55223921_55223923del , CM000677.2:g.55223921_55223923del | GRCh38 |
| NC_000015.9:g.55516119_55516121del , CM000677.1:g.55516119_55516121del | GRCh37 |
| NC_000015.8:g.53303411_53303413del | NCBI36 |
| NG_009103.1:g.70886_70888del , LRG_96:g.70886_70888del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697641.1:n.2474_2476del | ||
| ENST00000697642.1:c.438_440del | ENSP00000513368.1:p.Glu147del | |
| ENST00000697643.1:c.438_440del | ENSP00000513369.1:p.Glu147del | |
| ENST00000697644.1:n.2606_2608del | ||
| ENST00000336787.6:c.438_440del MANE Select | ENSP00000337761.1:p.Glu147del | |
| ENST00000336787.5:c.438_440del | ENSP00000337761.1:p.Glu147del | |
| ENST00000396307.6:c.438_440del | ENSP00000379601.2:p.Glu147del | |
| ENST00000564609.5:c.438_440del | ENSP00000455012.1:p.Glu147del | |
| ENST00000566877.5:c.438_440del | ENSP00000454695.1:p.Glu147del | |
| ENST00000567380.5:c.438_440del | ENSP00000458127.1:p.Glu146del | |
| ENST00000569493.5:c.438_440del | ENSP00000456059.1:p.Glu147del | |
| NM_004580.4:c.438_440del | NP_004571.2:p.Glu147del | |
| NM_183234.2:c.438_440del | NP_899057.1:p.Glu147del | |
| NM_183235.2:c.438_440del | NP_899058.1:p.Glu147del | |
| NM_183236.2:c.438_440del | NP_899059.1:p.Glu147del | |
| XM_005254576.3:c.438_440del | XP_005254633.1:p.Glu147del | |
| XM_011521852.1:c.438_440del | XP_011520154.1:p.Glu147del | |
| XM_011521853.1:c.438_440del | XP_011520155.1:p.Glu147del | |
| XM_011521854.1:c.438_440del | XP_011520156.1:p.Glu147del | |
| XM_011521855.1:c.438_440del | XP_011520157.1:p.Glu147del | |
| XM_011521856.1:c.438_440del | XP_011520158.1:p.Glu147del | |
| XM_005254576.5:c.438_440del | XP_005254633.1:p.Glu147del | |
| XM_011521855.3:c.438_440del | XP_011520157.1:p.Glu147del | |
| XM_011521856.2:c.438_440del | XP_011520158.1:p.Glu147del | |
| XM_024450009.1:c.438_440del | XP_024305777.1:p.Glu147del | |
| NM_183235.3:c.438_440del MANE Select | NP_899058.1:p.Glu147del | |
| NM_004580.5:c.438_440del | NP_004571.2:p.Glu147del | |
| NM_183236.3:c.438_440del | NP_899059.1:p.Glu147del |