Linked Data
ClinVar Variation Id:
7441
ClinVar RCV Id:
RCV000007867
dbSNP Id:
rs587776657
PubMed:
PMID:9425897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220701_1220704del , CM000681.2:g.1220701_1220704del | GRCh38 |
| NC_000019.9:g.1220700_1220703del , CM000681.1:g.1220700_1220703del | GRCh37 |
| NC_000019.8:g.1171700_1171703del | NCBI36 |
| NG_007460.2:g.36295_36298del , LRG_319:g.36295_36298del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.718_721del | ENSP00000490268.2:p.Ser240LeufsTer? | |
| ENST00000585748.3:c.346_349del | ENSP00000477641.2:p.Ser116LeufsTer? | |
| ENST00000585851.2:c.544_547del | ENSP00000467912.2:p.Ser182LeufsTer? | |
| ENST00000326873.12:c.718_721del MANE Select | ENSP00000324856.6:p.Ser240LeufsTer? | |
| ENST00000652231.1:c.718_721del | ENSP00000498804.1:p.Ser240LeufsTer? | |
| ENST00000326873.11:c.718_721del | ENSP00000324856.6:p.Ser240LeufsTer? | |
| ENST00000586243.5:c.718_721del | ENSP00000467240.2:p.Ser240LeufsTer? | |
| ENST00000586358.5:n.616_619del | ||
| ENST00000589152.5:n.808_811del | ||
| ENST00000591133.2:n.689_692del | ||
| NM_000455.4:c.718_721del , LRG_319t1:c.718_721del | NP_000446.1:p.Ser240LeufsTer? | |
| XM_005259617.1:c.718_721del | XP_005259674.1:p.Ser240LeufsTer? | |
| XM_005259618.3:c.718_721del | XP_005259675.1:p.Ser240LeufsTer? | |
| XM_011528209.1:c.496_499del | XP_011526511.1:p.Ser166LeufsTer? | |
| XR_936204.1:n.1343_1346del | ||
| XM_005259617.3:c.718_721del | XP_005259674.1:p.Ser240LeufsTer? | |
| XM_011528209.2:c.496_499del | XP_011526511.1:p.Ser166LeufsTer? | |
| XR_001753738.2:n.1343_1346del | ||
| XR_001753739.1:n.1343_1346del | ||
| XR_001753740.2:n.1343_1346del | ||
| NM_000455.5:c.718_721del MANE Select | NP_000446.1:p.Ser240LeufsTer? |