Linked Data
ClinVar Variation Id:
177647
ClinVar RCV Id:
RCV000154231
dbSNP Id:
rs121913440
COSMIC:
COSM6255
CIViC:
CA180566
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174776_55174793del , CM000669.2:g.55174776_55174793del | GRCh38 |
| NC_000007.13:g.55242469_55242486del , CM000669.1:g.55242469_55242486del | GRCh37 |
| NC_000007.12:g.55209963_55209980del | NCBI36 |
| NG_007726.3:g.160745_160762del , LRG_304:g.160745_160762del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2080_2097del | ENSP00000413354.2:p.Leu694_Ser699del | |
| ENST00000700145.1:c.588_605del | ||
| ENST00000275493.7:c.2239_2256del MANE Select | ENSP00000275493.2:p.Leu747_Ser752del | |
| ENST00000275493.6:c.2239_2256del | ENSP00000275493.2:p.Leu747_Ser752del | |
| ENST00000442591.5:c.*28+1848_*28+1865del | ENSP00000410031.1:n.*28+1848_*28+1865del | |
| ENST00000454757.6:c.2104_2121del | ENSP00000395243.3:p.Leu702_Ser707del | |
| ENST00000455089.5:c.2104_2121del | ENSP00000415559.1:p.Leu702_Ser707del | |
| NM_005228.3:c.2239_2256del , LRG_304t1:c.2239_2256del | NP_005219.2:p.Leu747_Ser752del | |
| NM_001346897.1:c.2104_2121del | NP_001333826.1:p.Leu702_Ser707del | |
| NM_001346898.1:c.2239_2256del | NP_001333827.1:p.Leu747_Ser752del | |
| NM_001346899.1:c.2104_2121del | NP_001333828.1:p.Leu702_Ser707del | |
| NM_001346900.1:c.2080_2097del | NP_001333829.1:p.Leu694_Ser699del | |
| NM_001346941.1:c.1438_1455del | NP_001333870.1:p.Leu480_Ser485del | |
| NM_005228.4:c.2239_2256del | NP_005219.2:p.Leu747_Ser752del | |
| NM_005228.5:c.2239_2256del MANE Select | NP_005219.2:p.Leu747_Ser752del | |
| NM_001346897.2:c.2104_2121del | NP_001333826.1:p.Leu702_Ser707del | |
| NM_001346898.2:c.2239_2256del | NP_001333827.1:p.Leu747_Ser752del | |
| NM_001346900.2:c.2080_2097del | NP_001333829.1:p.Leu694_Ser699del | |
| NM_001346941.2:c.1438_1455del | NP_001333870.1:p.Leu480_Ser485del | |
| NM_001346899.2:c.2104_2121del | NP_001333828.1:p.Leu702_Ser707del |