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_000011.10:g.101051304_101051305insACAGGGCAGTTCGATATTATCCGCGCCTCCGTTATTTCAATTACAGAAGACCAACGCCTGCAAATGCTCTTGGTAGGTTTTGCTTTCGGAGCCTTCTTGGAAGGTGCGGCAGGTTTCGGCGCACCGG , CM000673.2:g.101051304_101051305insACAGGGCAGTTCGATATTATCCGCGCCTCCGTTATTTCAATTACAGAAGACCAACGCCTGCAAATGCTCTTGGTAGGTTTTGCTTTCGGAGCCTTCTTGGAAGGTGCGGCAGGTTTCGGCGCACCGG | GRCh38 |
| NC_000011.9:g.100922035_100922036insACAGGGCAGTTCGATATTATCCGCGCCTCCGTTATTTCAATTACAGAAGACCAACGCCTGCAAATGCTCTTGGTAGGTTTTGCTTTCGGAGCCTTCTTGGAAGGTGCGGCAGGTTTCGGCGCACCGG , CM000673.1:g.100922035_100922036insACAGGGCAGTTCGATATTATCCGCGCCTCCGTTATTTCAATTACAGAAGACCAACGCCTGCAAATGCTCTTGGTAGGTTTTGCTTTCGGAGCCTTCTTGGAAGGTGCGGCAGGTTTCGGCGCACCGG | GRCh37 |
| NC_000011.8:g.100427245_100427246insACAGGGCAGTTCGATATTATCCGCGCCTCCGTTATTTCAATTACAGAAGACCAACGCCTGCAAATGCTCTTGGTAGGTTTTGCTTTCGGAGCCTTCTTGGAAGGTGCGGCAGGTTTCGGCGCACCGG | NCBI36 |
| NG_016475.1:g.83509_83510insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325455.10:c.2357+119_2357+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT MANE Select | ENSP00000325120.5:n.2357+119_2357+120insC... | |
| ENST00000263463.9:c.2051+119_2051+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000263463.5:n.2051+119_2051+120insC... | |
| ENST00000325455.9:c.2357+119_2357+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000325120.5:n.2357+119_2357+120insC... | |
| ENST00000526300.5:c.2051+119_2051+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000436803.1:n.2051+119_2051+120insC... | |
| ENST00000528960.5:c.2240+119_2240+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000432914.1:n.2240+119_2240+120insC... | |
| ENST00000530764.1:n.47+119_47+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ||
| ENST00000533207.5:n.1724+119_1724+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ||
| ENST00000534013.5:c.575+119_575+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000436561.1:n.575+119_575+120insCCG... | |
| ENST00000534780.5:c.2357+119_2357+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000432352.1:n.2357+119_2357+120insC... | |
| ENST00000617858.4:c.2051+119_2051+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000481227.1:n.2051+119_2051+120insC... | |
| ENST00000619228.2:c.2240+119_2240+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ENSP00000482698.1:n.2240+119_2240+120insC... | |
| NM_000926.4:c.2357+119_2357+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT MANE Select | NP_000917.3:n.2357+119_2357+120insCCGGTGC... | |
| NM_001202474.3:c.1865+119_1865+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | NP_001189403.1:n.1865+119_1865+120insCCGG... | |
| NM_001271161.2:c.1559+119_1559+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | NP_001258090.1:n.1559+119_1559+120insCCGG... | |
| NM_001271162.1:c.575+119_575+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | NP_001258091.1:n.575+119_575+120insCCGGTG... | |
| NR_073141.2:n.2350+119_2350+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ||
| NR_073142.2:n.2233+119_2233+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ||
| NR_073143.2:n.2044+119_2044+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ||
| XM_006718858.2:c.2357+119_2357+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | XP_006718921.1:n.2357+119_2357+120insCCGG... | |
| XM_006718858.3:c.2357+119_2357+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | XP_006718921.1:n.2357+119_2357+120insCCGG... | |
| NM_001271162.2:c.575+119_575+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | NP_001258091.1:n.575+119_575+120insCCGGTG... | |
| NR_073141.3:n.2364+119_2364+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ||
| NR_073142.3:n.2247+119_2247+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT | ||
| NR_073143.3:n.2058+119_2058+120insCCGGTGCGCCGAAACCTGCCGCACCTTCCAAGAAGGCTCCGAAAGCAAAACCTACCAAGAGCATTTGCAGGCGTTGGTCTTCTGTAATTGAAATAACGGAGGCGCGGATAATATCGAACTGCCCTGT |