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_000015.10:g.32152048_32152049insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT , CM000677.2:g.32152048_32152049insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | GRCh38 |
| NC_000015.9:g.32444249_32444250insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT , CM000677.1:g.32444249_32444250insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | GRCh37 |
| NC_000015.8:g.30231541_30231542insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | NCBI36 |
| NG_009216.1:g.126524_126525insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306901.9:c.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT MANE Select | ENSP00000303727.2:n.351-1859_351-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000635722.1:c.196-5408_196-5407insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490605.1:n.196-5408_196-5407insATTTTAAGGGTACCAACCCTG... | |
| ENST00000635884.1:c.165-1859_165-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000489834.1:n.165-1859_165-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000635978.1:c.114-1859_114-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490778.1:n.114-1859_114-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000636044.1:c.351-5560_351-5559insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000489970.1:n.351-5560_351-5559insATTTTAAGGGTACCAACCCTG... | |
| ENST00000636271.1:c.193-1859_193-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ||
| ENST00000636292.1:n.721-1859_721-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ||
| ENST00000636440.1:c.372-1859_372-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490366.1:n.372-1859_372-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000636603.1:c.165-1859_165-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490513.1:n.165-1859_165-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000636647.1:n.340-1859_340-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ||
| ENST00000636850.1:c.341-1859_341-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490906.1:n.341-1859_341-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000637033.1:c.165-1859_165-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490227.1:n.165-1859_165-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000637183.1:c.114-1859_114-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490365.1:n.114-1859_114-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000637350.1:c.475-5560_475-5559insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000489911.1:n.475-5560_475-5559insATTTTAAGGGTACCAACCCTG... | |
| ENST00000637519.1:c.241-1859_241-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490924.1:n.241-1859_241-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000637552.1:c.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490773.1:n.351-1859_351-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000637971.1:c.478-1859_478-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000489919.1:n.478-1859_478-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000638031.1:c.475-1859_475-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490526.1:n.475-1859_475-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000638106.1:c.-193-1859_-193-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000490413.1:n.-193-1859_-193-1858insATTTTAAGGGTACCAACCC... | |
| ENST00000675428.1:c.438-1859_438-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000502560.1:n.438-1859_438-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000676380.1:n.426-1859_426-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ||
| ENST00000306901.7:c.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000303727.2:n.351-1859_351-1858insATTTTAAGGGTACCAACCCTG... | |
| ENST00000437966.3:c.241-5560_241-5559insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000399087.3:n.241-5560_241-5559insATTTTAAGGGTACCAACCCTG... | |
| ENST00000454250.7:c.438-1859_438-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ENSP00000407546.3:n.438-1859_438-1858insATTTTAAGGGTACCAACCCTG... | |
| NM_000746.5:c.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | NP_000737.1:n.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACC... | |
| NM_001190455.2:c.438-1859_438-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | NP_001177384.1:n.438-1859_438-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| NR_046324.1:n.353-5560_353-5559insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | ||
| XM_011521175.1:c.123-1859_123-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519477.1:n.123-1859_123-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| XM_011521176.1:c.114-1859_114-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519478.1:n.114-1859_114-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| XM_011521177.1:c.48-1859_48-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519479.1:n.48-1859_48-1858insATTTTAAGGGTACCAACCCTGGGTAC... | |
| XM_011521178.1:c.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519480.1:n.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| XM_011521179.1:c.-193-1859_-193-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519481.1:n.-193-1859_-193-1858insATTTTAAGGGTACCAACCCTGG... | |
| XM_011521176.3:c.303-1859_303-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519478.2:n.303-1859_303-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| XM_011521177.2:c.48-1859_48-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519479.1:n.48-1859_48-1858insATTTTAAGGGTACCAACCCTGGGTAC... | |
| XM_011521178.3:c.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_011519480.1:n.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| XM_017021882.1:c.168-1859_168-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_016877371.1:n.168-1859_168-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| XM_017021883.2:c.165-1859_165-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_016877372.1:n.165-1859_165-1858insATTTTAAGGGTACCAACCCTGGGT... | |
| XM_017021884.1:c.-193-1859_-193-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | XP_016877373.1:n.-193-1859_-193-1858insATTTTAAGGGTACCAACCCTGG... | |
| NM_000746.6:c.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT MANE Select | NP_000737.1:n.351-1859_351-1858insATTTTAAGGGTACCAACCCTGGGTACC... | |
| NM_001190455.3:c.438-1859_438-1858insATTTTAAGGGTACCAACCCTGGGTACCCTTAAAACACAGCCCTACTGGTGGTTTATTTTTCTTTACCAGTAGGGCTGT | NP_001177384.1:n.438-1859_438-1858insATTTTAAGGGTACCAACCCTGGGT... |