Linked Data
ClinVar Variation Id:
195958
dbSNP Id:
rs778390089
ExAC:
15:31318399 TC / T
gnomAD v2:
15-31318399-TC-T
gnomAD v3:
15-31026196-TC-T
gnomAD v4:
15-31026196-TC-T
MyVariant Identifiers:
chr15:g.31318400del (hg19)
chr15:g.31318400delC (hg19)
chr15:g.31026197del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31026199del , CM000677.2:g.31026199del | GRCh38 |
| NC_000015.9:g.31318402del , CM000677.1:g.31318402del | GRCh37 |
| NC_000015.8:g.29105694del | NCBI36 |
| NG_016453.1:g.80525del | |
| NG_016453.2:g.140077del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.3523del | ENSP00000518752.1:p.Glu1175ArgfsTer26 | |
| ENST00000397795.7:c.3505del | ENSP00000380897.2:p.Glu1169ArgfsTer26 | |
| ENST00000558445.6:c.3622del | ENSP00000452946.2:p.Glu1208ArgfsTer26 | |
| ENST00000559177.6:c.967del | ENSP00000453477.2:p.Glu323ArgfsTer26 | |
| ENST00000256552.11:c.3571del MANE Select | ENSP00000256552.7:p.Glu1191ArgfsTer26 | |
| ENST00000256552.10:c.3571del | ENSP00000256552.6:p.Glu1191ArgfsTer26 | |
| ENST00000397795.6:c.3505del | ENSP00000380897.2:p.Glu1169ArgfsTer26 | |
| ENST00000542188.5:c.3622del | ENSP00000437849.1:p.Glu1208ArgfsTer26 | |
| ENST00000558445.5:c.3505del | ENSP00000452946.1:p.Glu1169ArgfsTer26 | |
| ENST00000558768.5:c.3274del | ENSP00000453119.2:p.Glu1092ArgfsTer26 | |
| ENST00000559177.5:c.850del | ENSP00000453477.1:p.Glu284ArgfsTer26 | |
| ENST00000560801.5:c.3147del | ENSP00000453644.2:n.3147del | |
| NM_001252020.1:c.3622del | NP_001238949.1:p.Glu1208ArgfsTer26 | |
| NM_001252024.1:c.3571del | NP_001238953.1:p.Glu1191ArgfsTer26 | |
| NM_002420.5:c.3505del | NP_002411.3:p.Glu1169ArgfsTer26 | |
| XR_001751769.1:n.12del | ||
| NM_001252024.2:c.3571del MANE Select | NP_001238953.1:p.Glu1191ArgfsTer26 | |
| NM_002420.6:c.3505del | NP_002411.3:p.Glu1169ArgfsTer26 | |
| NM_001252020.2:c.3622del | NP_001238949.1:p.Glu1208ArgfsTer26 |