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.108330293_108330315delinsTTATGTAAAGCAGTTGAAAATTA , CM000673.2:g.108330293_108330315delinsTTATGTAAAGCAGTTGAAAATTA | GRCh38 |
| NC_000011.9:g.108201020_108201042delinsTTATGTAAAGCAGTTGAAAATTA , CM000673.1:g.108201020_108201042delinsTTATGTAAAGCAGTTGAAAATTA | GRCh37 |
| NC_000011.8:g.107706230_107706252delinsTTATGTAAAGCAGTTGAAAATTA | NCBI36 |
| NG_009830.1:g.112462_112484delinsTTATGTAAAGCAGTTGAAAATTA , LRG_135:g.112462_112484delinsTTATGTAAAGCAGTTGAAAATTA | |
| NG_054724.1:g.144518_144540delinsTAATTTTCAACTGCTTTACATAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ENSP00000388058.2:p.Leu2463= | |
| ENST00000713593.1:c.*6858_*6880delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ENSP00000518889.1:n.*6858_*6880delinsTTAT... | |
| ENST00000278616.9:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ENSP00000278616.4:p.Leu2463= | |
| ENST00000525056.2:n.1806_1828delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000525537.3:n.344_366delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000638786.2:n.224_246delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000682286.1:n.2144_2166delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000682302.1:n.1805_1827delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000683174.1:n.8871_8893delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000683524.1:n.2611_2633delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000684152.1:n.3101_3123delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000684447.1:n.1850_1872delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000527805.6:c.*2451_*2473delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ENSP00000435747.2:n.*2451_*2473delinsTTAT... | |
| ENST00000675595.1:c.*2522_*2544delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ENSP00000502563.1:n.*2522_*2544delinsTTAT... | |
| ENST00000675843.1:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) MANE Select | ENSP00000501606.1:p.Leu2463= | |
| ENST00000278616.8:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ENSP00000278616.4:p.Leu2463= | |
| ENST00000452508.6:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ENSP00000388058.2:p.Leu2463= | |
| ENST00000524792.5:n.3602_3624delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| ENST00000525729.5:c.641-21244_641-21222delinsTAATTTTCAACTGCTTTACATAA (C11orf65) | ENSP00000433395.1:n.641-21244_641-21222de... | |
| ENST00000533690.5:n.2791_2813delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | ||
| NM_000051.3:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA , LRG_135t1:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | NP_000042.3:p.Leu2463= | |
| XM_005271561.3:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_005271618.2:p.Leu2463= | |
| XM_005271562.3:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_005271619.2:p.Leu2463= | |
| XM_006718843.2:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_006718906.1:p.Leu2463= | |
| XM_006718845.1:c.3343_3365delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_006718908.1:p.Leu1115= | |
| XM_011542840.1:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541142.1:p.Leu2463= | |
| XM_011542841.1:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541143.1:p.Leu2463= | |
| XM_011542842.1:c.7222_7244delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541144.1:p.Leu2408= | |
| XM_011542843.1:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541145.1:p.Leu2463= | |
| XM_011542844.1:c.6343_6365delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541146.1:p.Leu2115= | |
| XM_011542845.1:c.6079_6101delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541147.1:p.Leu2027= | |
| XM_011542847.1:c.2458_2480delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541149.1:p.Leu820= | |
| NM_001330368.1:c.641-21244_641-21222delinsTAATTTTCAACTGCTTTACATAA (C11orf65) | NP_001317297.1:n.641-21244_641-21222delin... | |
| NM_001351110.1:c.*38+4905_*38+4927delinsTAATTTTCAACTGCTTTACATAA (C11orf65) | NP_001338039.1:n.*38+4905_*38+4927delinsT... | |
| NM_001351834.1:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | NP_001338763.1:p.Leu2463= | |
| XM_005271562.5:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_005271619.2:p.Leu2463= | |
| XM_006718843.4:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_006718906.1:p.Leu2463= | |
| XM_006718845.2:c.3343_3365delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_006718908.1:p.Leu1115= | |
| XM_011542840.3:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541142.1:p.Leu2463= | |
| XM_011542842.3:c.7222_7244delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541144.1:p.Leu2408= | |
| XM_011542843.2:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541145.1:p.Leu2463= | |
| XM_011542844.3:c.6343_6365delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541146.1:p.Leu2115= | |
| XM_011542845.2:c.6079_6101delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_011541147.1:p.Leu2027= | |
| XM_017017789.2:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_016873278.1:p.Leu2463= | |
| XM_017017790.2:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | XP_016873279.1:p.Leu2463= | |
| NM_001330368.2:c.641-21244_641-21222delinsTAATTTTCAACTGCTTTACATAA (C11orf65) | NP_001317297.1:n.641-21244_641-21222delin... | |
| NM_001351110.2:c.*38+4905_*38+4927delinsTAATTTTCAACTGCTTTACATAA (C11orf65) | NP_001338039.1:n.*38+4905_*38+4927delinsT... | |
| NM_001351834.2:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) | NP_001338763.1:p.Leu2463= | |
| NM_000051.4:c.7387_7409delinsTTATGTAAAGCAGTTGAAAATTA (ATM) MANE Select | NP_000042.3:p.Leu2463= |