Linked Data
ClinVar Variation Id:
8756
ClinVar RCV Id:
RCV000009299
dbSNP Id:
rs1057519608
gnomAD v3:
15-48259250-TG-T
gnomAD v4:
15-48259250-TG-T
PubMed:
PMID:19513753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48259252del , CM000677.2:g.48259252del | GRCh38 |
| NC_000015.9:g.48551449del , CM000677.1:g.48551449del | GRCh37 |
| NC_000015.8:g.46338741del | NCBI36 |
| NG_021301.1:g.57952del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.2095del | ENSP00000508901.1:p.Asp699ThrfsTer2 | |
| ENST00000380993.8:c.2095del MANE Select | ENSP00000370381.3:p.Asp699ThrfsTer2 | |
| ENST00000646012.1:c.2233del | ENSP00000495813.1:p.Asp745ThrfsTer2 | |
| ENST00000647232.1:c.2095del | ENSP00000493875.1:p.Asp699ThrfsTer2 | |
| ENST00000647546.1:c.2095del | ENSP00000495332.1:p.Asp699ThrfsTer2 | |
| ENST00000380993.7:c.2095del | ENSP00000370381.3:p.Asp699ThrfsTer2 | |
| ENST00000396577.7:c.2095del | ENSP00000379822.3:p.Asp699ThrfsTer2 | |
| ENST00000558252.5:n.6218del | ||
| ENST00000558405.5:c.2095del | ENSP00000453409.1:p.Asp699ThrfsTer2 | |
| ENST00000559641.5:c.1534del | ENSP00000453230.1:p.Asp512ThrfsTer2 | |
| ENST00000560692.5:n.6234del | ||
| NM_000338.2:c.2095del | NP_000329.2:p.Asp699ThrfsTer2 | |
| NM_001184832.1:c.2095del | NP_001171761.1:p.Asp699ThrfsTer2 | |
| XM_005254605.1:c.2191del | XP_005254662.1:p.Asp731ThrfsTer2 | |
| XM_005254606.1:c.2095del | XP_005254663.1:p.Asp699ThrfsTer2 | |
| XM_006720656.1:c.2191del | XP_006720719.1:p.Asp731ThrfsTer2 | |
| XR_931896.1:n.2407del | ||
| XM_005254606.2:c.2095del | XP_005254663.1:p.Asp699ThrfsTer2 | |
| NM_000338.3:c.2095del MANE Select | NP_000329.2:p.Asp699ThrfsTer2 | |
| NM_001184832.2:c.2095del | NP_001171761.1:p.Asp699ThrfsTer2 | |
| NM_001384136.1:c.2095del | NP_001371065.1:p.Asp699ThrfsTer2 |