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.108353873_108353881delinsTTCAGAAGG , CM000673.2:g.108353873_108353881delinsTTCAGAAGG | GRCh38 |
| NC_000011.9:g.108224600_108224608delinsTTCAGAAGG , CM000673.1:g.108224600_108224608delinsTTCAGAAGG | GRCh37 |
| NC_000011.8:g.107729810_107729818delinsTTCAGAAGG | NCBI36 |
| NG_009830.1:g.136042_136050delinsTTCAGAAGG , LRG_135:g.136042_136050delinsTTCAGAAGG | |
| NG_054724.1:g.120952_120960delinsCCTTCTGAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| ENST00000713593.1:c.*8250_*8257+1delinsTTCAGAAGG (ATM) | ||
| ENST00000278616.9:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| ENST00000638786.2:n.1477_1484+1delinsTTCAGAAGG (ATM) | ||
| ENST00000682286.1:n.3536_3543+1delinsTTCAGAAGG (ATM) | ||
| ENST00000682302.1:n.3197_3204+1delinsTTCAGAAGG (ATM) | ||
| ENST00000683174.1:n.10263_10270+1delinsTTCAGAAGG (ATM) | ||
| ENST00000683524.1:n.4003_4010+1delinsTTCAGAAGG (ATM) | ||
| ENST00000684152.1:n.4195_4202+1delinsTTCAGAAGG (ATM) | ||
| ENST00000684180.1:n.1253_1260+1delinsTTCAGAAGG (ATM) | ||
| ENST00000684447.1:n.5272_5279+1delinsTTCAGAAGG (ATM) | ||
| ENST00000527805.6:c.*3843_*3850+1delinsTTCAGAAGG (ATM) | ||
| ENST00000675595.1:c.*3914_*3921+1delinsTTCAGAAGG (ATM) | ||
| ENST00000675843.1:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| ENST00000278616.8:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| ENST00000452508.6:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| ENST00000524755.5:c.227-18589_227-18581delinsCCTTCTGAA (C11orf65) | ||
| ENST00000524792.5:n.4994_5001+1delinsTTCAGAAGG (ATM) | ||
| ENST00000525178.5:n.267_274+1delinsTTCAGAAGG (ATM) | ||
| ENST00000525729.5:c.640+32039_640+32047delinsCCTTCTGAA (C11orf65) | ENSP00000433395.1:n.640+32039_640+32047de... | |
| ENST00000526725.1:n.272-13517_272-13509delinsCCTTCTGAA (C11orf65) | ||
| ENST00000527181.1:n.118_125+1delinsTTCAGAAGG (ATM) | ||
| ENST00000527531.5:c.*1196+1034_*1196+1042delinsCCTTCTGAA (C11orf65) | ENSP00000431706.1:n.*1196+1034_*1196+1042... | |
| ENST00000615746.4:c.*1196+1034_*1196+1042delinsCCTTCTGAA (C11orf65) | ENSP00000483537.1:n.*1196+1034_*1196+1042... | |
| NM_000051.3:c.8779_8786+1delinsTTCAGAAGG , LRG_135t1:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_005271414.3:c.788-18589_788-18581delinsCCTTCTGAA (C11orf65) | XP_005271471.1:n.788-18589_788-18581delin... | |
| XM_005271415.3:c.732-18589_732-18581delinsCCTTCTGAA (C11orf65) | XP_005271472.1:n.732-18589_732-18581delin... | |
| XM_005271561.3:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_005271562.3:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_006718843.2:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_006718845.1:c.4735_4742+1delinsTTCAGAAGG (ATM) | ||
| XM_011542640.1:c.788-13517_788-13509delinsCCTTCTGAA (C11orf65) | XP_011540942.1:n.788-13517_788-13509delin... | |
| XM_011542642.1:c.732-4808_732-4800delinsCCTTCTGAA (C11orf65) | XP_011540944.1:n.732-4808_732-4800delinsC... | |
| XM_011542643.1:c.732-13517_732-13509delinsCCTTCTGAA (C11orf65) | XP_011540945.1:n.732-13517_732-13509delin... | |
| XM_011542840.1:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_011542841.1:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_011542842.1:c.8614_8621+1delinsTTCAGAAGG (ATM) | ||
| XM_011542844.1:c.7735_7742+1delinsTTCAGAAGG (ATM) | ||
| XM_011542845.1:c.7471_7478+1delinsTTCAGAAGG (ATM) | ||
| XM_011542847.1:c.3850_3857+1delinsTTCAGAAGG (ATM) | ||
| NM_001330368.1:c.640+32039_640+32047delinsCCTTCTGAA (C11orf65) | NP_001317297.1:n.640+32039_640+32047delin... | |
| NM_001351110.1:c.695-18589_695-18581delinsCCTTCTGAA (C11orf65) | NP_001338039.1:n.695-18589_695-18581delin... | |
| NM_001351834.1:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| NR_147053.2:n.2301+1034_2301+1042delinsCCTTCTGAA (C11orf65) | ||
| XM_005271414.4:c.788-18589_788-18581delinsCCTTCTGAA (C11orf65) | XP_005271471.1:n.788-18589_788-18581delin... | |
| XM_005271415.4:c.732-18589_732-18581delinsCCTTCTGAA (C11orf65) | XP_005271472.1:n.732-18589_732-18581delin... | |
| XM_005271562.5:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_006718843.4:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_006718845.2:c.4735_4742+1delinsTTCAGAAGG (ATM) | ||
| XM_011542640.2:c.788-13517_788-13509delinsCCTTCTGAA (C11orf65) | XP_011540942.1:n.788-13517_788-13509delin... | |
| XM_011542643.2:c.732-13517_732-13509delinsCCTTCTGAA (C11orf65) | XP_011540945.1:n.732-13517_732-13509delin... | |
| XM_011542840.3:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_011542842.3:c.8614_8621+1delinsTTCAGAAGG (ATM) | ||
| XM_011542844.3:c.7735_7742+1delinsTTCAGAAGG (ATM) | ||
| XM_011542845.2:c.7471_7478+1delinsTTCAGAAGG (ATM) | ||
| XM_017017247.1:c.904-13517_904-13509delinsCCTTCTGAA (C11orf65) | XP_016872736.1:n.904-13517_904-13509delin... | |
| XM_017017789.2:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| XM_017017790.2:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| NM_001330368.2:c.640+32039_640+32047delinsCCTTCTGAA (C11orf65) | NP_001317297.1:n.640+32039_640+32047delin... | |
| NM_001351110.2:c.695-18589_695-18581delinsCCTTCTGAA (C11orf65) | NP_001338039.1:n.695-18589_695-18581delin... | |
| NM_001351834.2:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| NM_000051.4:c.8779_8786+1delinsTTCAGAAGG (ATM) | ||
| NR_147053.3:n.2299+1034_2299+1042delinsCCTTCTGAA (C11orf65) |