Linked Data
ClinVar Variation Id:
375555
ClinVar RCV Id:
RCV000454373
dbSNP Id:
rs1060499543
PubMed:
PMID:28334876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150125550_150125555del , CM000667.2:g.150125550_150125555del | GRCh38 |
| NC_000005.9:g.149505113_149505118del , CM000667.1:g.149505113_149505118del | GRCh37 |
| NC_000005.8:g.149485306_149485311del | NCBI36 |
| NG_023367.1:g.35305_35310del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261799.9:c.1697_1702del MANE Select | ENSP00000261799.4:p.Trp566_Val568delinsLe... | |
| ENST00000261799.8:c.1697_1702del | ENSP00000261799.4:p.Trp566_Val568delinsLe... | |
| ENST00000520579.5:c.*1011_*1016del | ENSP00000430026.1:n.*1011_*1016del | |
| NM_002609.3:c.1697_1702del | NP_002600.1:p.Trp566_Val568delinsLeu | |
| XM_005268464.2:c.1505_1510del | XP_005268521.1:p.Trp502_Val504delinsLeu | |
| XM_011537658.1:c.1697_1702del | XP_011535960.1:p.Trp566_Val568delinsLeu | |
| XM_011537659.1:c.1697_1702del | XP_011535961.1:p.Trp566_Val568delinsLeu | |
| XM_011537660.1:c.1697_1702del | XP_011535962.1:p.Trp566_Val568delinsLeu | |
| NM_001355016.1:c.1505_1510del | NP_001341945.1:p.Trp502_Val504delinsLeu | |
| NM_001355017.1:c.1214_1219del | NP_001341946.1:p.Trp405_Val407delinsLeu | |
| NM_002609.4:c.1697_1702del MANE Select | NP_002600.1:p.Trp566_Val568delinsLeu | |
| NM_001355016.2:c.1505_1510del | NP_001341945.1:p.Trp502_Val504delinsLeu | |
| NM_001355017.2:c.1214_1219del | NP_001341946.1:p.Trp405_Val407delinsLeu |