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.140753331_140753336delinsGTTGCT , CM000669.2:g.140753331_140753336delinsGTTGCT | GRCh38 |
| NC_000007.13:g.140453131_140453136delinsGTTGCT , CM000669.1:g.140453131_140453136delinsGTTGCT | GRCh37 |
| NC_000007.12:g.140099600_140099605delinsGTTGCT | NCBI36 |
| NG_007873.3:g.176429_176434delinsAGCAAC , LRG_299:g.176429_176434delinsAGCAAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1799_1804delinsAGCAAC MANE Select | ENSP00000493543.1:p.Val600_Ser602delinsGl... | |
| ENST00000288602.11:c.1919_1924delinsAGCAAC | ENSP00000288602.7:p.Val640_Ser642delinsGl... | |
| ENST00000479537.6:c.469_474delinsAGCAAC | ||
| ENST00000496384.7:c.1799_1804delinsAGCAAC | ENSP00000419060.2:p.Val600_Ser602delinsGl... | |
| ENST00000497784.2:c.*1249_*1254delinsAGCAAC | ENSP00000420119.2:n.*1249_*1254delinsAGCA... | |
| ENST00000642228.1:c.*877_*882delinsAGCAAC | ENSP00000493678.1:n.*877_*882delinsAGCAAC... | |
| ENST00000642875.1:n.1259-3918_1259-3913delinsAGCAAC | ||
| ENST00000644120.1:n.2189_2194delinsAGCAAC | ||
| ENST00000644650.1:c.895_900delinsAGCAAC | ||
| ENST00000644905.1:n.2681_2686delinsAGCAAC | ||
| ENST00000644969.2:c.1919_1924delinsAGCAAC MANE Plus Clinical | ENSP00000496776.1:p.Val640_Ser642delinsGl... | |
| ENST00000646730.1:c.*375_*380delinsAGCAAC | ENSP00000494784.1:n.*375_*380delinsAGCAAC... | |
| ENST00000646891.1:c.1799_1804delinsAGCAAC | ENSP00000493543.1:p.Val600_Ser602delinsGl... | |
| ENST00000647434.1:c.738-3918_738-3913delinsAGCAAC | ENSP00000495132.1:n.738-3918_738-3913deli... | |
| ENST00000288602.10:c.1799_1804delinsAGCAAC | ENSP00000288602.6:p.Val600_Ser602delinsGl... | |
| ENST00000479537.5:c.83_88delinsAGCAAC | ENSP00000418033.1:p.Val28_Ser30delinsGluG... | |
| ENST00000496384.6:c.622_627delinsAGCAAC | ||
| ENST00000497784.1:c.1834_1839delinsAGCAAC | ENSP00000420119.1:n.1834_1839delinsAGCAAC... | |
| NM_004333.4:c.1799_1804delinsAGCAAC , LRG_299t1:c.1799_1804delinsAGCAAC | NP_004324.2:p.Val600_Ser602delinsGluGlnPr... | |
| XM_005250045.1:c.1799_1804delinsAGCAAC | XP_005250102.1:p.Val600_Ser602delinsGluGl... | |
| XM_005250046.1:c.1799_1804delinsAGCAAC | XP_005250103.1:p.Val600_Ser602delinsGluGl... | |
| XM_011516529.1:c.1799_1804delinsAGCAAC | XP_011514831.1:p.Val600_Ser602delinsGluGl... | |
| XM_011516530.1:c.1695-3918_1695-3913delinsAGCAAC | XP_011514832.1:n.1695-3918_1695-3913delin... | |
| XR_242190.1:n.1807_1812delinsAGCAAC | ||
| XR_927520.1:n.1807_1812delinsAGCAAC | ||
| XR_927521.1:n.1807_1812delinsAGCAAC | ||
| XR_927522.1:n.1703-3918_1703-3913delinsAGCAAC | ||
| XR_927523.1:n.1703-3918_1703-3913delinsAGCAAC | ||
| NM_001354609.1:c.1799_1804delinsAGCAAC | NP_001341538.1:p.Val600_Ser602delinsGluGl... | |
| NM_004333.5:c.1799_1804delinsAGCAAC | NP_004324.2:p.Val600_Ser602delinsGluGlnPr... | |
| NR_148928.1:n.2897_2902delinsAGCAAC | ||
| XM_017012558.1:c.1919_1924delinsAGCAAC | XP_016868047.1:p.Val640_Ser642delinsGluGl... | |
| XM_017012559.1:c.1919_1924delinsAGCAAC | XP_016868048.1:p.Val640_Ser642delinsGluGl... | |
| XR_001744857.1:n.1927_1932delinsAGCAAC | ||
| XR_001744858.1:n.1823-3918_1823-3913delinsAGCAAC | ||
| NM_001354609.2:c.1799_1804delinsAGCAAC | NP_001341538.1:p.Val600_Ser602delinsGluGl... | |
| NM_001374244.1:c.1919_1924delinsAGCAAC | NP_001361173.1:p.Val640_Ser642delinsGluGl... | |
| NM_001374258.1:c.1919_1924delinsAGCAAC MANE Plus Clinical | NP_001361187.1:p.Val640_Ser642delinsGluGl... | |
| NM_004333.6:c.1799_1804delinsAGCAAC MANE Select | NP_004324.2:p.Val600_Ser602delinsGluGlnPr... | |
| NM_001378467.1:c.1808_1813delinsAGCAAC | NP_001365396.1:p.Val603_Ser605delinsGluGl... | |
| NM_001378468.1:c.1799_1804delinsAGCAAC | NP_001365397.1:p.Val600_Ser602delinsGluGl... | |
| NM_001378469.1:c.1733_1738delinsAGCAAC | NP_001365398.1:p.Val578_Ser580delinsGluGl... | |
| NM_001378470.1:c.1697_1702delinsAGCAAC | NP_001365399.1:p.Val566_Ser568delinsGluGl... | |
| NM_001378471.1:c.1688_1693delinsAGCAAC | NP_001365400.1:p.Val563_Ser565delinsGluGl... | |
| NM_001378472.1:c.1643_1648delinsAGCAAC | NP_001365401.1:p.Val548_Ser550delinsGluGl... | |
| NM_001378473.1:c.1643_1648delinsAGCAAC | NP_001365402.1:p.Val548_Ser550delinsGluGl... | |
| NM_001378474.1:c.1799_1804delinsAGCAAC | NP_001365403.1:p.Val600_Ser602delinsGluGl... | |
| NM_001378475.1:c.1535_1540delinsAGCAAC | NP_001365404.1:p.Val512_Ser514delinsGluGl... |