Linked Data
ClinVar Variation Id:
177617
ClinVar RCV Id:
RCV000154195
dbSNP Id:
rs121913463
COSMIC:
COSM6256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174791_55174814del , CM000669.2:g.55174791_55174814del | GRCh38 |
| NC_000007.13:g.55242484_55242507del , CM000669.1:g.55242484_55242507del | GRCh37 |
| NC_000007.12:g.55209978_55210001del | NCBI36 |
| NG_007726.3:g.160760_160783del , LRG_304:g.160760_160783del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2095_2118del | ENSP00000413354.2:p.Ser699_Ile706del | |
| ENST00000700145.1:c.603_626del | ||
| ENST00000275493.7:c.2254_2277del MANE Select | ENSP00000275493.2:p.Ser752_Ile759del | |
| ENST00000275493.6:c.2254_2277del | ENSP00000275493.2:p.Ser752_Ile759del | |
| ENST00000442591.5:c.*28+1863_*28+1886del | ENSP00000410031.1:n.*28+1863_*28+1886del | |
| ENST00000454757.6:c.2119_2142del | ENSP00000395243.3:p.Ser707_Ile714del | |
| ENST00000455089.5:c.2119_2142del | ENSP00000415559.1:p.Ser707_Ile714del | |
| NM_005228.3:c.2254_2277del , LRG_304t1:c.2254_2277del | NP_005219.2:p.Ser752_Ile759del | |
| NM_001346897.1:c.2119_2142del | NP_001333826.1:p.Ser707_Ile714del | |
| NM_001346898.1:c.2254_2277del | NP_001333827.1:p.Ser752_Ile759del | |
| NM_001346899.1:c.2119_2142del | NP_001333828.1:p.Ser707_Ile714del | |
| NM_001346900.1:c.2095_2118del | NP_001333829.1:p.Ser699_Ile706del | |
| NM_001346941.1:c.1453_1476del | NP_001333870.1:p.Ser485_Ile492del | |
| NM_005228.4:c.2254_2277del | NP_005219.2:p.Ser752_Ile759del | |
| NM_005228.5:c.2254_2277del MANE Select | NP_005219.2:p.Ser752_Ile759del | |
| NM_001346897.2:c.2119_2142del | NP_001333826.1:p.Ser707_Ile714del | |
| NM_001346898.2:c.2254_2277del | NP_001333827.1:p.Ser752_Ile759del | |
| NM_001346900.2:c.2095_2118del | NP_001333829.1:p.Ser699_Ile706del | |
| NM_001346941.2:c.1453_1476del | NP_001333870.1:p.Ser485_Ile492del | |
| NM_001346899.2:c.2119_2142del | NP_001333828.1:p.Ser707_Ile714del |