UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
COSMIC:
COSM5772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952124_87952193delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT , CM000672.2:g.87952124_87952193delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | GRCh38 |
| NC_000010.10:g.89711881_89711950delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT , CM000672.1:g.89711881_89711950delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | GRCh37 |
| NC_000010.9:g.89701861_89701930delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NCBI36 |
| NG_007466.2:g.93686_93755delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT , LRG_311:g.93686_93755delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000514759.2:p.Thr167LeufsTer16 | |
| ENST00000710265.1:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000518161.1:p.Thr167LeufsTer16 | |
| ENST00000472832.3:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000483066.2:p.Thr167LeufsTer16 | |
| ENST00000688158.2:n.1234_1303delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ||
| ENST00000688922.2:c.*329_*398delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000508742.2:n.*329_*398delinsCTATTC... | |
| ENST00000700021.1:c.454_523delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000514757.1:p.Thr152LeufsTer16 | |
| ENST00000700022.1:c.493-5729_493-5660delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000514758.1:n.493-5729_493-5660deli... | |
| ENST00000700023.1:n.1657_1726delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ||
| ENST00000700024.1:n.1891_1960delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ||
| ENST00000700025.1:n.1268_1337delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ||
| ENST00000700029.1:c.333_402delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ||
| ENST00000706954.1:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000516674.1:p.Thr167LeufsTer16 | |
| ENST00000706955.1:c.*534_*603delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000516675.1:n.*534_*603delinsCTATTC... | |
| ENST00000686459.1:c.*85_*154delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000508909.1:n.*85_*154delinsCTATTCC... | |
| ENST00000688158.1:c.*610_*679delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000509254.1:n.*610_*679delinsCTATTC... | |
| ENST00000688308.1:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000508752.1:p.Thr167LeufsTer16 | |
| ENST00000688922.1:c.420_489delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ||
| ENST00000693560.1:c.1018_1087delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000509861.1:p.Thr340LeufsTer16 | |
| ENST00000371953.8:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT MANE Select | ENSP00000361021.3:p.Thr167LeufsTer16 | |
| ENST00000371953.7:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ENSP00000361021.3:p.Thr167LeufsTer16 | |
| NM_000314.5:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NP_000305.3:p.Thr167LeufsTer16 | |
| NM_000314.6:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NP_000305.3:p.Thr167LeufsTer16 | |
| NM_001304717.2:c.1018_1087delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NP_001291646.2:p.Thr340LeufsTer16 | |
| NM_001304718.1:c.-93_-24delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NP_001291647.1:n.-93_-24delinsCTATTCCCAGT... | |
| XM_006717926.2:c.454_523delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | XP_006717989.1:p.Thr152LeufsTer16 | |
| XM_011539981.1:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | XP_011538283.1:p.Thr167LeufsTer16 | |
| XM_011539982.1:c.403_472delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | XP_011538284.1:p.Thr135LeufsTer16 | |
| XR_945791.1:n.1205-5729_1205-5660delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | ||
| NM_000314.7:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NP_000305.3:p.Thr167LeufsTer16 | |
| NM_001304717.5:c.1018_1087delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NP_001291646.4:p.Thr340LeufsTer16 | |
| NM_001304718.2:c.-93_-24delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT | NP_001291647.1:n.-93_-24delinsCTATTCCCAGT... | |
| NM_000314.8:c.499_568delinsCTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGAT MANE Select | NP_000305.3:p.Thr167LeufsTer16 |