Linked Data
ClinVar Variation Id:
177765
ClinVar RCV Id:
RCV000154382
dbSNP Id:
rs121913436
COSMIC:
COSM6218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174776_55174784del , CM000669.2:g.55174776_55174784del | GRCh38 |
| NC_000007.13:g.55242469_55242477del , CM000669.1:g.55242469_55242477del | GRCh37 |
| NC_000007.12:g.55209963_55209971del | NCBI36 |
| NG_007726.3:g.160745_160753del , LRG_304:g.160745_160753del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2080_2088del | ENSP00000413354.2:p.Leu694_Glu696del | |
| ENST00000700145.1:c.588_596del | ||
| ENST00000275493.7:c.2239_2247del MANE Select | ENSP00000275493.2:p.Leu747_Glu749del | |
| ENST00000275493.6:c.2239_2247del | ENSP00000275493.2:p.Leu747_Glu749del | |
| ENST00000442591.5:c.*28+1848_*28+1856del | ENSP00000410031.1:n.*28+1848_*28+1856del | |
| ENST00000454757.6:c.2104_2112del | ENSP00000395243.3:p.Leu702_Glu704del | |
| ENST00000455089.5:c.2104_2112del | ENSP00000415559.1:p.Leu702_Glu704del | |
| NM_005228.3:c.2239_2247del , LRG_304t1:c.2239_2247del | NP_005219.2:p.Leu747_Glu749del | |
| NM_001346897.1:c.2104_2112del | NP_001333826.1:p.Leu702_Glu704del | |
| NM_001346898.1:c.2239_2247del | NP_001333827.1:p.Leu747_Glu749del | |
| NM_001346899.1:c.2104_2112del | NP_001333828.1:p.Leu702_Glu704del | |
| NM_001346900.1:c.2080_2088del | NP_001333829.1:p.Leu694_Glu696del | |
| NM_001346941.1:c.1438_1446del | NP_001333870.1:p.Leu480_Glu482del | |
| NM_005228.4:c.2239_2247del | NP_005219.2:p.Leu747_Glu749del | |
| NM_005228.5:c.2239_2247del MANE Select | NP_005219.2:p.Leu747_Glu749del | |
| NM_001346897.2:c.2104_2112del | NP_001333826.1:p.Leu702_Glu704del | |
| NM_001346898.2:c.2239_2247del | NP_001333827.1:p.Leu747_Glu749del | |
| NM_001346900.2:c.2080_2088del | NP_001333829.1:p.Leu694_Glu696del | |
| NM_001346941.2:c.1438_1446del | NP_001333870.1:p.Leu480_Glu482del | |
| NM_001346899.2:c.2104_2112del | NP_001333828.1:p.Leu702_Glu704del |