Linked Data
ClinVar Variation Id:
252998
ClinVar RCV Id:
RCV000417074
dbSNP Id:
rs1057519384
PubMed:
PMID:27658992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122213_193122216del , CM000663.2:g.193122213_193122216del | GRCh38 |
| NC_000001.10:g.193091343_193091346del , CM000663.1:g.193091343_193091346del | GRCh37 |
| NC_000001.9:g.191357966_191357969del | NCBI36 |
| NG_012691.1:g.5256_5259del , LRG_507:g.5256_5259del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367435.5:c.13_16del MANE Select | ENSP00000356405.4:p.Leu5AlafsTer15 | |
| ENST00000635846.1:c.13_16del | ENSP00000490035.1:p.Leu5AlafsTer15 | |
| ENST00000643006.1:c.13_16del | ENSP00000496633.1:p.Leu5AlafsTer15 | |
| ENST00000643784.1:c.13_16del | ENSP00000494944.1:p.Leu5AlafsTer15 | |
| ENST00000648071.1:c.13_16del | ENSP00000497513.1:p.Leu5AlafsTer15 | |
| ENST00000649606.1:n.26_29del | ||
| ENST00000649895.1:n.231_234del | ||
| ENST00000650197.1:c.13_16del | ENSP00000496929.1:p.Leu5AlafsTer15 | |
| ENST00000367435.3:c.13_16del | ENSP00000356405.3:p.Leu5AlafsTer15 | |
| NM_024529.4:c.13_16del , LRG_507t1:c.13_16del | NP_078805.3:p.Leu5AlafsTer15 | |
| XM_006711537.2:c.13_16del | XP_006711600.1:p.Leu5AlafsTer15 | |
| XM_006711537.4:c.13_16del | XP_006711600.1:p.Leu5AlafsTer15 | |
| XR_001738350.1:n.1441_1444del | ||
| NM_024529.5:c.13_16del MANE Select | NP_078805.3:p.Leu5AlafsTer15 |