Linked Data
ClinVar Variation Id:
3281
ClinVar RCV Id:
RCV000003442
dbSNP Id:
rs587776561
COSMIC:
COSM26070
PubMed:
PMID:15613436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122213_193122230del , CM000663.2:g.193122213_193122230del | GRCh38 |
| NC_000001.10:g.193091343_193091360del , CM000663.1:g.193091343_193091360del | GRCh37 |
| NC_000001.9:g.191357966_191357983del | NCBI36 |
| NG_012691.1:g.5256_5273del , LRG_507:g.5256_5273del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367435.5:c.13_30del MANE Select | ENSP00000356405.4:p.Leu5_Gln10del | |
| ENST00000635846.1:c.13_30del | ENSP00000490035.1:p.Leu5_Gln10del | |
| ENST00000643006.1:c.13_30del | ENSP00000496633.1:p.Leu5_Gln10del | |
| ENST00000643784.1:c.13_30del | ENSP00000494944.1:p.Leu5_Gln10del | |
| ENST00000648071.1:c.13_30del | ENSP00000497513.1:p.Leu5_Gln10del | |
| ENST00000649606.1:n.26_43del | ||
| ENST00000649895.1:n.231_248del | ||
| ENST00000650197.1:c.13_30del | ENSP00000496929.1:p.Leu5_Gln10del | |
| ENST00000367435.3:c.13_30del | ENSP00000356405.3:p.Leu5_Gln10del | |
| NM_024529.4:c.13_30del , LRG_507t1:c.13_30del | NP_078805.3:p.Leu5_Gln10del | |
| XM_006711537.2:c.13_30del | XP_006711600.1:p.Leu5_Gln10del | |
| XM_006711537.4:c.13_30del | XP_006711600.1:p.Leu5_Gln10del | |
| XR_001738350.1:n.1428_1445del | ||
| NM_024529.5:c.13_30del MANE Select | NP_078805.3:p.Leu5_Gln10del |