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.108302636_108302653delinsTAATTTTTCTGCTGCCTA , CM000673.2:g.108302636_108302653delinsTAATTTTTCTGCTGCCTA | GRCh38 |
| NC_000011.9:g.108173363_108173380delinsTAATTTTTCTGCTGCCTA , CM000673.1:g.108173363_108173380delinsTAATTTTTCTGCTGCCTA | GRCh37 |
| NC_000011.8:g.107678573_107678590delinsTAATTTTTCTGCTGCCTA | NCBI36 |
| NG_009830.1:g.84805_84822delinsTAATTTTTCTGCTGCCTA , LRG_135:g.84805_84822delinsTAATTTTTCTGCTGCCTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | ENSP00000388058.2:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA... | |
| ENST00000713593.1:c.*4791-217_*4791-200delinsTAATTTTTCTGCTGCCTA | ENSP00000518889.1:n.*4791-217_*4791-200delinsTAATTTTTCTGCTGCC... | |
| ENST00000278616.9:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | ENSP00000278616.4:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA... | |
| ENST00000683174.1:n.6804-217_6804-200delinsTAATTTTTCTGCTGCCTA | ||
| ENST00000683524.1:n.544-217_544-200delinsTAATTTTTCTGCTGCCTA | ||
| ENST00000684152.1:n.1034-217_1034-200delinsTAATTTTTCTGCTGCCTA | ||
| ENST00000527805.6:c.*384-217_*384-200delinsTAATTTTTCTGCTGCCTA | ENSP00000435747.2:n.*384-217_*384-200delinsTAATTTTTCTGCTGCCTA... | |
| ENST00000675595.1:c.*384-217_*384-200delinsTAATTTTTCTGCTGCCTA | ENSP00000502563.1:n.*384-217_*384-200delinsTAATTTTTCTGCTGCCTA... | |
| ENST00000675843.1:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA MANE Select | ENSP00000501606.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA... | |
| ENST00000278616.8:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | ENSP00000278616.4:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA... | |
| ENST00000452508.6:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | ENSP00000388058.2:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA... | |
| ENST00000524792.5:n.1535-217_1535-200delinsTAATTTTTCTGCTGCCTA | ||
| ENST00000533690.5:n.724-217_724-200delinsTAATTTTTCTGCTGCCTA | ||
| ENST00000534625.1:n.549-217_549-200delinsTAATTTTTCTGCTGCCTA | ||
| NM_000051.3:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA , LRG_135t1:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | NP_000042.3:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_005271561.3:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_005271618.2:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_005271562.3:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_005271619.2:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_006718843.2:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_006718906.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_006718845.1:c.1276-217_1276-200delinsTAATTTTTCTGCTGCCTA | XP_006718908.1:n.1276-217_1276-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542840.1:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_011541142.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542841.1:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_011541143.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542842.1:c.5155-217_5155-200delinsTAATTTTTCTGCTGCCTA | XP_011541144.1:n.5155-217_5155-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542843.1:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_011541145.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542844.1:c.4276-217_4276-200delinsTAATTTTTCTGCTGCCTA | XP_011541146.1:n.4276-217_4276-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542845.1:c.4012-217_4012-200delinsTAATTTTTCTGCTGCCTA | XP_011541147.1:n.4012-217_4012-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542846.1:c.5319-215_5319-198delinsTAATTTTTCTGCTGCCTA | XP_011541148.1:n.5319-215_5319-198delinsTAATTTTTCTGCTGCCTA | |
| XM_011542847.1:c.391-217_391-200delinsTAATTTTTCTGCTGCCTA | XP_011541149.1:n.391-217_391-200delinsTAATTTTTCTGCTGCCTA | |
| NM_001351834.1:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | NP_001338763.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_005271562.5:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_005271619.2:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_006718843.4:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_006718906.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_006718845.2:c.1276-217_1276-200delinsTAATTTTTCTGCTGCCTA | XP_006718908.1:n.1276-217_1276-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542840.3:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_011541142.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542842.3:c.5155-217_5155-200delinsTAATTTTTCTGCTGCCTA | XP_011541144.1:n.5155-217_5155-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542843.2:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_011541145.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542844.3:c.4276-217_4276-200delinsTAATTTTTCTGCTGCCTA | XP_011541146.1:n.4276-217_4276-200delinsTAATTTTTCTGCTGCCTA | |
| XM_011542845.2:c.4012-217_4012-200delinsTAATTTTTCTGCTGCCTA | XP_011541147.1:n.4012-217_4012-200delinsTAATTTTTCTGCTGCCTA | |
| XM_017017789.2:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_016873278.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_017017790.2:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_016873279.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_017017791.1:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | XP_016873280.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| XM_017017792.2:c.*1-217_*1-200delinsTAATTTTTCTGCTGCCTA | XP_016873281.1:n.*1-217_*1-200delinsTAATTTTTCTGCTGCCTA | |
| XR_002957150.1:n.5920-217_5920-200delinsTAATTTTTCTGCTGCCTA | ||
| NM_001351834.2:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | NP_001338763.1:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA | |
| NM_000051.4:c.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA MANE Select | NP_000042.3:n.5320-217_5320-200delinsTAATTTTTCTGCTGCCTA |