Linked Data
ClinVar Variation Id:
376312
ClinVar RCV Id:
RCV000420537
dbSNP Id:
rs121913313
COSMIC:
COSM984
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43113630_43113656del , CM000672.2:g.43113630_43113656del | GRCh38 |
| NC_000010.10:g.43609078_43609104del , CM000672.1:g.43609078_43609104del | GRCh37 |
| NC_000010.9:g.42929084_42929110del | NCBI36 |
| NG_007489.1:g.41562_41588del , LRG_518:g.41562_41588del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.1438_1464del | ENSP00000480088.2:p.Phe480_Cys488del | |
| ENST00000683007.1:n.1408_1434del | ||
| ENST00000683872.1:n.595_621del | ||
| ENST00000340058.6:c.1834_1860del | ENSP00000344798.4:p.Phe612_Cys620del | |
| ENST00000355710.8:c.1834_1860del MANE Select | ENSP00000347942.3:p.Phe612_Cys620del | |
| ENST00000671844.1:c.*428_*454del | ENSP00000500541.1:n.*428_*454del | |
| ENST00000672389.1:c.*428_*454del | ENSP00000500252.1:n.*428_*454del | |
| ENST00000340058.5:c.1834_1860del | ENSP00000344798.4:p.Phe612_Cys620del | |
| ENST00000355710.7:c.1834_1860del | ENSP00000347942.3:p.Phe612_Cys620del | |
| ENST00000498820.5:c.385_411del | ENSP00000419080.1:p.Phe129_Cys137del | |
| ENST00000615310.4:c.1289+2398_1289+2424del | ENSP00000480088.1:n.1289+2398_1289+2424de... | |
| NM_020630.4:c.1834_1860del , LRG_518t2:c.1834_1860del | NP_065681.1:p.Phe612_Cys620del | |
| NM_020975.4:c.1834_1860del , LRG_518t1:c.1834_1860del | NP_066124.1:p.Phe612_Cys620del | |
| XM_011540027.1:c.1834_1860del | XP_011538329.1:p.Phe612_Cys620del | |
| NM_001355216.1:c.1072_1098del | NP_001342145.1:p.Phe358_Cys366del | |
| NM_020630.5:c.1834_1860del | NP_065681.1:p.Phe612_Cys620del | |
| NM_020975.5:c.1834_1860del | NP_066124.1:p.Phe612_Cys620del | |
| NM_020975.6:c.1834_1860del MANE Select | NP_066124.1:p.Phe612_Cys620del | |
| NM_020630.6:c.1834_1860del | NP_065681.1:p.Phe612_Cys620del |