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:
COSM34031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140778039_140778054delinsT , CM000669.2:g.140778039_140778054delinsT | GRCh38 |
| NC_000007.13:g.140477839_140477854delinsT , CM000669.1:g.140477839_140477854delinsT | GRCh37 |
| NC_000007.12:g.140124308_140124323delinsT | NCBI36 |
| NG_007873.3:g.151711_151726delinsA , LRG_299:g.151711_151726delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1454_1469delinsA MANE Select | ENSP00000493543.1:p.Leu485_Pro490delinsTy... | |
| ENST00000288602.11:c.1574_1589delinsA | ENSP00000288602.7:p.Leu525_Pro530delinsTy... | |
| ENST00000479537.6:c.124_139delinsA | ||
| ENST00000496384.7:c.1454_1469delinsA | ENSP00000419060.2:p.Leu485_Pro490delinsTy... | |
| ENST00000497784.2:c.*904_*919delinsA | ENSP00000420119.2:n.*904_*919delinsA | |
| ENST00000642228.1:c.*532_*547delinsA | ENSP00000493678.1:n.*532_*547delinsA | |
| ENST00000642875.1:n.1018_1033delinsA | ||
| ENST00000644120.1:n.1844_1859delinsA | ||
| ENST00000644650.1:c.550_565delinsA | ||
| ENST00000644905.1:n.1543_1558delinsA | ||
| ENST00000644969.2:c.1574_1589delinsA MANE Plus Clinical | ENSP00000496776.1:p.Leu525_Pro530delinsTy... | |
| ENST00000646730.1:c.1454_1469delinsA | ENSP00000494784.1:p.Leu485_Pro490delinsTy... | |
| ENST00000646891.1:c.1454_1469delinsA | ENSP00000493543.1:p.Leu485_Pro490delinsTy... | |
| ENST00000647434.1:c.497_512delinsA | ENSP00000495132.1:p.Leu166_Pro171delinsTy... | |
| ENST00000288602.10:c.1454_1469delinsA | ENSP00000288602.6:p.Leu485_Pro490delinsTy... | |
| ENST00000496384.6:c.277_292delinsA | ||
| ENST00000497784.1:c.1489_1504delinsA | ENSP00000420119.1:n.1489_1504delinsA | |
| NM_004333.4:c.1454_1469delinsA , LRG_299t1:c.1454_1469delinsA | NP_004324.2:p.Leu485_Pro490delinsTyr | |
| XM_005250045.1:c.1454_1469delinsA | XP_005250102.1:p.Leu485_Pro490delinsTyr | |
| XM_005250046.1:c.1454_1469delinsA | XP_005250103.1:p.Leu485_Pro490delinsTyr | |
| XM_011516529.1:c.1454_1469delinsA | XP_011514831.1:p.Leu485_Pro490delinsTyr | |
| XM_011516530.1:c.1454_1469delinsA | XP_011514832.1:p.Leu485_Pro490delinsTyr | |
| XR_242190.1:n.1462_1477delinsA | ||
| XR_927520.1:n.1462_1477delinsA | ||
| XR_927521.1:n.1462_1477delinsA | ||
| XR_927522.1:n.1462_1477delinsA | ||
| XR_927523.1:n.1462_1477delinsA | ||
| NM_001354609.1:c.1454_1469delinsA | NP_001341538.1:p.Leu485_Pro490delinsTyr | |
| NM_004333.5:c.1454_1469delinsA | NP_004324.2:p.Leu485_Pro490delinsTyr | |
| NR_148928.1:n.1759_1774delinsA | ||
| XM_017012558.1:c.1574_1589delinsA | XP_016868047.1:p.Leu525_Pro530delinsTyr | |
| XM_017012559.1:c.1574_1589delinsA | XP_016868048.1:p.Leu525_Pro530delinsTyr | |
| XR_001744857.1:n.1582_1597delinsA | ||
| XR_001744858.1:n.1582_1597delinsA | ||
| NM_001354609.2:c.1454_1469delinsA | NP_001341538.1:p.Leu485_Pro490delinsTyr | |
| NM_001374244.1:c.1574_1589delinsA | NP_001361173.1:p.Leu525_Pro530delinsTyr | |
| NM_001374258.1:c.1574_1589delinsA MANE Plus Clinical | NP_001361187.1:p.Leu525_Pro530delinsTyr | |
| NM_004333.6:c.1454_1469delinsA MANE Select | NP_004324.2:p.Leu485_Pro490delinsTyr | |
| NM_001378467.1:c.1463_1478delinsA | NP_001365396.1:p.Leu488_Pro493delinsTyr | |
| NM_001378468.1:c.1454_1469delinsA | NP_001365397.1:p.Leu485_Pro490delinsTyr | |
| NM_001378469.1:c.1388_1403delinsA | NP_001365398.1:p.Leu463_Pro468delinsTyr | |
| NM_001378470.1:c.1352_1367delinsA | NP_001365399.1:p.Leu451_Pro456delinsTyr | |
| NM_001378471.1:c.1343_1358delinsA | NP_001365400.1:p.Leu448_Pro453delinsTyr | |
| NM_001378472.1:c.1298_1313delinsA | NP_001365401.1:p.Leu433_Pro438delinsTyr | |
| NM_001378473.1:c.1298_1313delinsA | NP_001365402.1:p.Leu433_Pro438delinsTyr | |
| NM_001378474.1:c.1454_1469delinsA | NP_001365403.1:p.Leu485_Pro490delinsTyr | |
| NM_001378475.1:c.1190_1205delinsA | NP_001365404.1:p.Leu397_Pro402delinsTyr |