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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140778039_140778053del , CM000669.2:g.140778039_140778053del | GRCh38 |
| NC_000007.13:g.140477839_140477853del , CM000669.1:g.140477839_140477853del | GRCh37 |
| NC_000007.12:g.140124308_140124322del | NCBI36 |
| NG_007873.3:g.151712_151726del , LRG_299:g.151712_151726del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1455_1469del MANE Select | ENSP00000493543.1:p.Leu485_Pro490delinsPh... | |
| ENST00000288602.11:c.1575_1589del | ENSP00000288602.7:p.Leu525_Pro530delinsPh... | |
| ENST00000479537.6:c.125_139del | ||
| ENST00000496384.7:c.1455_1469del | ENSP00000419060.2:p.Leu485_Pro490delinsPh... | |
| ENST00000497784.2:c.*905_*919del | ENSP00000420119.2:n.*905_*919del | |
| ENST00000642228.1:c.*533_*547del | ENSP00000493678.1:n.*533_*547del | |
| ENST00000642875.1:n.1019_1033del | ||
| ENST00000644120.1:n.1845_1859del | ||
| ENST00000644650.1:c.551_565del | ||
| ENST00000644905.1:n.1544_1558del | ||
| ENST00000644969.2:c.1575_1589del MANE Plus Clinical | ENSP00000496776.1:p.Leu525_Pro530delinsPh... | |
| ENST00000646730.1:c.1455_1469del | ENSP00000494784.1:p.Leu485_Pro490delinsPh... | |
| ENST00000646891.1:c.1455_1469del | ENSP00000493543.1:p.Leu485_Pro490delinsPh... | |
| ENST00000647434.1:c.498_512del | ENSP00000495132.1:p.Leu166_Pro171delinsPh... | |
| ENST00000288602.10:c.1455_1469del | ENSP00000288602.6:p.Leu485_Pro490delinsPh... | |
| ENST00000496384.6:c.278_292del | ||
| ENST00000497784.1:c.1490_1504del | ENSP00000420119.1:n.1490_1504del | |
| NM_004333.4:c.1455_1469del , LRG_299t1:c.1455_1469del | NP_004324.2:p.Leu485_Pro490delinsPhe | |
| XM_005250045.1:c.1455_1469del | XP_005250102.1:p.Leu485_Pro490delinsPhe | |
| XM_005250046.1:c.1455_1469del | XP_005250103.1:p.Leu485_Pro490delinsPhe | |
| XM_011516529.1:c.1455_1469del | XP_011514831.1:p.Leu485_Pro490delinsPhe | |
| XM_011516530.1:c.1455_1469del | XP_011514832.1:p.Leu485_Pro490delinsPhe | |
| XR_242190.1:n.1463_1477del | ||
| XR_927520.1:n.1463_1477del | ||
| XR_927521.1:n.1463_1477del | ||
| XR_927522.1:n.1463_1477del | ||
| XR_927523.1:n.1463_1477del | ||
| NM_001354609.1:c.1455_1469del | NP_001341538.1:p.Leu485_Pro490delinsPhe | |
| NM_004333.5:c.1455_1469del | NP_004324.2:p.Leu485_Pro490delinsPhe | |
| NR_148928.1:n.1760_1774del | ||
| XM_017012558.1:c.1575_1589del | XP_016868047.1:p.Leu525_Pro530delinsPhe | |
| XM_017012559.1:c.1575_1589del | XP_016868048.1:p.Leu525_Pro530delinsPhe | |
| XR_001744857.1:n.1583_1597del | ||
| XR_001744858.1:n.1583_1597del | ||
| NM_001354609.2:c.1455_1469del | NP_001341538.1:p.Leu485_Pro490delinsPhe | |
| NM_001374244.1:c.1575_1589del | NP_001361173.1:p.Leu525_Pro530delinsPhe | |
| NM_001374258.1:c.1575_1589del MANE Plus Clinical | NP_001361187.1:p.Leu525_Pro530delinsPhe | |
| NM_004333.6:c.1455_1469del MANE Select | NP_004324.2:p.Leu485_Pro490delinsPhe | |
| NM_001378467.1:c.1464_1478del | NP_001365396.1:p.Leu488_Pro493delinsPhe | |
| NM_001378468.1:c.1455_1469del | NP_001365397.1:p.Leu485_Pro490delinsPhe | |
| NM_001378469.1:c.1389_1403del | NP_001365398.1:p.Leu463_Pro468delinsPhe | |
| NM_001378470.1:c.1353_1367del | NP_001365399.1:p.Leu451_Pro456delinsPhe | |
| NM_001378471.1:c.1344_1358del | NP_001365400.1:p.Leu448_Pro453delinsPhe | |
| NM_001378472.1:c.1299_1313del | NP_001365401.1:p.Leu433_Pro438delinsPhe | |
| NM_001378473.1:c.1299_1313del | NP_001365402.1:p.Leu433_Pro438delinsPhe | |
| NM_001378474.1:c.1455_1469del | NP_001365403.1:p.Leu485_Pro490delinsPhe | |
| NM_001378475.1:c.1191_1205del | NP_001365404.1:p.Leu397_Pro402delinsPhe |