Linked Data
ClinVar Variation Id:
376313
dbSNP Id:
rs121913312
COSMIC:
COSM968
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114494_43114499del , CM000672.2:g.43114494_43114499del | GRCh38 |
| NC_000010.10:g.43609942_43609947del , CM000672.1:g.43609942_43609947del | GRCh37 |
| NC_000010.9:g.42929948_42929953del | NCBI36 |
| NG_007489.1:g.42426_42431del , LRG_518:g.42426_42431del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.1498_1503del | ENSP00000480088.2:p.Glu500_Leu501del | |
| ENST00000683007.1:n.1468_1473del | ||
| ENST00000683872.1:n.1459_1464del | ||
| ENST00000340058.6:c.1894_1899del | ENSP00000344798.4:p.Glu632_Leu633del | |
| ENST00000355710.8:c.1894_1899del MANE Select | ENSP00000347942.3:p.Glu632_Leu633del | |
| ENST00000671844.1:c.*488_*493del | ENSP00000500541.1:n.*488_*493del | |
| ENST00000672389.1:c.*488_*493del | ENSP00000500252.1:n.*488_*493del | |
| ENST00000340058.5:c.1894_1899del | ENSP00000344798.4:p.Glu632_Leu633del | |
| ENST00000355710.7:c.1894_1899del | ENSP00000347942.3:p.Glu632_Leu633del | |
| ENST00000498820.5:c.445_450del | ENSP00000419080.1:p.Glu149_Leu150del | |
| ENST00000615310.4:c.1289+3262_1289+3267del | ENSP00000480088.1:n.1289+3262_1289+3267de... | |
| NM_020630.4:c.1894_1899del , LRG_518t2:c.1894_1899del | NP_065681.1:p.Glu632_Leu633del | |
| NM_020975.4:c.1894_1899del , LRG_518t1:c.1894_1899del | NP_066124.1:p.Glu632_Leu633del | |
| XM_011540027.1:c.1894_1899del | XP_011538329.1:p.Glu632_Leu633del | |
| NM_001355216.1:c.1132_1137del | NP_001342145.1:p.Glu378_Leu379del | |
| NM_020630.5:c.1894_1899del | NP_065681.1:p.Glu632_Leu633del | |
| NM_020975.5:c.1894_1899del | NP_066124.1:p.Glu632_Leu633del | |
| NM_020975.6:c.1894_1899del MANE Select | NP_066124.1:p.Glu632_Leu633del | |
| NM_020630.6:c.1894_1899del | NP_065681.1:p.Glu632_Leu633del |