Linked Data
dbSNP Id:
rs35302712
COSMIC:
COSM1451817
MyVariant Identifiers:
chr7:g.65425991del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961008del , CM000669.2:g.65961008del | GRCh38 |
| NC_000007.13:g.65425995del , CM000669.1:g.65425995del | GRCh37 |
| NC_000007.12:g.65063430del | NCBI36 |
| NG_016197.1:g.26311del | |
| NG_051954.1:g.92910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1849del MANE Select | ENSP00000302728.4:p.Ser617ValfsTer23 | |
| ENST00000304895.8:c.1849del | ENSP00000302728.4:p.Ser617ValfsTer23 | |
| ENST00000421103.5:c.1411del | ENSP00000391390.1:p.Ser471ValfsTer23 | |
| ENST00000430730.5:c.*1116del | ENSP00000411859.1:n.*1116del | |
| ENST00000447929.5:c.*1229del | ENSP00000411262.1:n.*1229del | |
| ENST00000466883.5:n.2239del | ||
| NM_000181.3:c.1849del | NP_000172.2:p.Ser617ValfsTer23 | |
| NM_001284290.1:c.1411del | NP_001271219.1:p.Ser471ValfsTer23 | |
| NM_001293104.1:c.1279del | NP_001280033.1:p.Ser427ValfsTer23 | |
| NM_001293105.1:c.1192del | NP_001280034.1:p.Ser398ValfsTer23 | |
| NR_120531.1:n.1895del | ||
| XM_005250297.3:c.1696del | XP_005250354.1:p.Ser566ValfsTer23 | |
| XM_011516113.1:c.1348del | XP_011514415.1:p.Ser450ValfsTer23 | |
| XM_011516114.1:c.1177del | XP_011514416.1:p.Ser393ValfsTer23 | |
| XM_005250297.4:c.1696del | XP_005250354.1:p.Ser566ValfsTer23 | |
| XM_011516114.2:c.1177del | XP_011514416.1:p.Ser393ValfsTer23 | |
| XM_017012091.1:c.1195del | XP_016867580.1:p.Ser399ValfsTer23 | |
| XM_017012092.1:c.1126del | XP_016867581.1:p.Ser376ValfsTer23 | |
| XM_017012093.2:c.1024del | XP_016867582.1:p.Ser342ValfsTer23 | |
| XR_001744658.2:n.1656del | ||
| XR_001744659.2:n.1769del | ||
| XR_001744660.2:n.1701del | ||
| XR_001744661.2:n.1616del | ||
| XR_927461.3:n.1854del | ||
| NM_000181.4:c.1849del MANE Select | NP_000172.2:p.Ser617ValfsTer23 | |
| NM_001284290.2:c.1411del | NP_001271219.1:p.Ser471ValfsTer23 | |
| NM_001293104.2:c.1279del | NP_001280033.1:p.Ser427ValfsTer23 | |
| NM_001293105.2:c.1192del | NP_001280034.1:p.Ser398ValfsTer23 | |
| NR_120531.2:n.1794del |