Linked Data
ClinVar Variation Id:
1760731
ClinVar RCV Id:
RCV002409950
COSMIC:
COSM133713
MyVariant Identifiers:
chr10:g.89717755del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957998del , CM000672.2:g.87957998del | GRCh38 |
| NC_000010.10:g.89717755del , CM000672.1:g.89717755del | GRCh37 |
| NC_000010.9:g.89707735del | NCBI36 |
| NG_007466.2:g.99560del , LRG_311:g.99560del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.780del | ENSP00000514759.2:p.Lys260AsnfsTer6 | |
| ENST00000710265.1:c.780del | ENSP00000518161.1:p.Lys260AsnfsTer6 | |
| ENST00000472832.3:c.780del | ENSP00000483066.2:p.Lys260AsnfsTer6 | |
| ENST00000688158.2:n.1515del | ||
| ENST00000688922.2:c.*610del | ENSP00000508742.2:n.*610del | |
| ENST00000700021.1:c.735del | ENSP00000514757.1:p.Lys245AsnfsTer6 | |
| ENST00000700022.1:c.*119del | ENSP00000514758.1:n.*119del | |
| ENST00000700023.1:n.1938del | ||
| ENST00000700024.1:n.2172del | ||
| ENST00000700025.1:n.1549del | ||
| ENST00000700026.1:n.417del | ||
| ENST00000700029.1:c.614del | ||
| ENST00000706954.1:c.780del | ENSP00000516674.1:p.Lys260AsnfsTer6 | |
| ENST00000706955.1:c.*815del | ENSP00000516675.1:n.*815del | |
| ENST00000686459.1:c.*366del | ENSP00000508909.1:n.*366del | |
| ENST00000688158.1:c.*891del | ENSP00000509254.1:n.*891del | |
| ENST00000688308.1:c.780del | ENSP00000508752.1:p.Lys260AsnfsTer6 | |
| ENST00000688922.1:c.701del | ||
| ENST00000693560.1:c.1299del | ENSP00000509861.1:p.Lys433AsnfsTer6 | |
| ENST00000371953.8:c.780del MANE Select | ENSP00000361021.3:p.Lys260AsnfsTer6 | |
| ENST00000371953.7:c.780del | ENSP00000361021.3:p.Lys260AsnfsTer6 | |
| ENST00000472832.2:c.207del | ENSP00000483066.1:p.Lys69AsnfsTer6 | |
| NM_000314.5:c.780del | NP_000305.3:p.Lys260AsnfsTer6 | |
| NM_000314.6:c.780del | NP_000305.3:p.Lys260AsnfsTer6 | |
| NM_001304717.2:c.1299del | NP_001291646.2:p.Lys433AsnfsTer6 | |
| NM_001304718.1:c.189del | NP_001291647.1:p.Lys63AsnfsTer6 | |
| XM_006717926.2:c.735del | XP_006717989.1:p.Lys245AsnfsTer6 | |
| XM_011539981.1:c.780del | XP_011538283.1:p.Lys260AsnfsTer6 | |
| XM_011539982.1:c.684del | XP_011538284.1:p.Lys228AsnfsTer6 | |
| XR_945791.1:n.1350del | ||
| NM_000314.7:c.780del | NP_000305.3:p.Lys260AsnfsTer6 | |
| NM_001304717.5:c.1299del | NP_001291646.4:p.Lys433AsnfsTer6 | |
| NM_001304718.2:c.189del | NP_001291647.1:p.Lys63AsnfsTer6 | |
| NM_000314.8:c.780del MANE Select | NP_000305.3:p.Lys260AsnfsTer6 |