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.108343322_108343326delinsGATAC , CM000673.2:g.108343322_108343326delinsGATAC | GRCh38 |
| NC_000011.9:g.108214049_108214053delinsGATAC , CM000673.1:g.108214049_108214053delinsGATAC | GRCh37 |
| NC_000011.8:g.107719259_107719263delinsGATAC | NCBI36 |
| NG_009830.1:g.125491_125495delinsGATAC , LRG_135:g.125491_125495delinsGATAC | |
| NG_054724.1:g.131507_131511delinsGTATC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.8369_8373delinsGATAC (ATM) | ENSP00000388058.2:p.Arg2790= | |
| ENST00000713593.1:c.*7840_*7844delinsGATAC (ATM) | ENSP00000518889.1:n.*7840_*7844delinsGATA... | |
| ENST00000278616.9:c.8369_8373delinsGATAC (ATM) | ENSP00000278616.4:p.Arg2790= | |
| ENST00000638786.2:n.1067_1071delinsGATAC (ATM) | ||
| ENST00000682286.1:n.3126_3130delinsGATAC (ATM) | ||
| ENST00000682302.1:n.2787_2791delinsGATAC (ATM) | ||
| ENST00000683174.1:n.9853_9857delinsGATAC (ATM) | ||
| ENST00000683524.1:n.3593_3597delinsGATAC (ATM) | ||
| ENST00000684152.1:n.3785_3789delinsGATAC (ATM) | ||
| ENST00000684180.1:n.843_847delinsGATAC (ATM) | ||
| ENST00000684447.1:n.4862_4866delinsGATAC (ATM) | ||
| ENST00000527805.6:c.*3433_*3437delinsGATAC (ATM) | ENSP00000435747.2:n.*3433_*3437delinsGATA... | |
| ENST00000675595.1:c.*3504_*3508delinsGATAC (ATM) | ENSP00000502563.1:n.*3504_*3508delinsGATA... | |
| ENST00000675843.1:c.8369_8373delinsGATAC (ATM) MANE Select | ENSP00000501606.1:p.Arg2790= | |
| ENST00000278616.8:c.8369_8373delinsGATAC (ATM) | ENSP00000278616.4:p.Arg2790= | |
| ENST00000452508.6:c.8369_8373delinsGATAC (ATM) | ENSP00000388058.2:p.Arg2790= | |
| ENST00000524755.5:c.227-8034_227-8030delinsGTATC (C11orf65) | ||
| ENST00000524792.5:n.4584_4588delinsGATAC (ATM) | ||
| ENST00000525729.5:c.641-34255_641-34251delinsGTATC (C11orf65) | ENSP00000433395.1:n.641-34255_641-34251de... | |
| ENST00000526725.1:n.272-2962_272-2958delinsGTATC (C11orf65) | ||
| ENST00000527531.5:c.*1197-8034_*1197-8030delinsGTATC (C11orf65) | ENSP00000431706.1:n.*1197-8034_*1197-8030... | |
| ENST00000615746.4:c.*1197-8034_*1197-8030delinsGTATC (C11orf65) | ENSP00000483537.1:n.*1197-8034_*1197-8030... | |
| NM_000051.3:c.8369_8373delinsGATAC , LRG_135t1:c.8369_8373delinsGATAC (ATM) | NP_000042.3:p.Arg2790= | |
| XM_005271414.3:c.788-8034_788-8030delinsGTATC (C11orf65) | XP_005271471.1:n.788-8034_788-8030delinsG... | |
| XM_005271415.3:c.732-8034_732-8030delinsGTATC (C11orf65) | XP_005271472.1:n.732-8034_732-8030delinsG... | |
| XM_005271561.3:c.8369_8373delinsGATAC (ATM) | XP_005271618.2:p.Arg2790= | |
| XM_005271562.3:c.8369_8373delinsGATAC (ATM) | XP_005271619.2:p.Arg2790= | |
| XM_006718843.2:c.8369_8373delinsGATAC (ATM) | XP_006718906.1:p.Arg2790= | |
| XM_006718845.1:c.4325_4329delinsGATAC (ATM) | XP_006718908.1:p.Arg1442= | |
| XM_011542640.1:c.788-2962_788-2958delinsGTATC (C11orf65) | XP_011540942.1:n.788-2962_788-2958delinsG... | |
| XM_011542643.1:c.732-2962_732-2958delinsGTATC (C11orf65) | XP_011540945.1:n.732-2962_732-2958delinsG... | |
| XM_011542840.1:c.8369_8373delinsGATAC (ATM) | XP_011541142.1:p.Arg2790= | |
| XM_011542841.1:c.8369_8373delinsGATAC (ATM) | XP_011541143.1:p.Arg2790= | |
| XM_011542842.1:c.8204_8208delinsGATAC (ATM) | XP_011541144.1:p.Arg2735= | |
| XM_011542843.1:c.8369_8373delinsGATAC (ATM) | XP_011541145.1:p.Arg2790= | |
| XM_011542844.1:c.7325_7329delinsGATAC (ATM) | XP_011541146.1:p.Arg2442= | |
| XM_011542845.1:c.7061_7065delinsGATAC (ATM) | XP_011541147.1:p.Arg2354= | |
| XM_011542847.1:c.3440_3444delinsGATAC (ATM) | XP_011541149.1:p.Arg1147= | |
| NM_001330368.1:c.641-34255_641-34251delinsGTATC (C11orf65) | NP_001317297.1:n.641-34255_641-34251delin... | |
| NM_001351110.1:c.695-8034_695-8030delinsGTATC (C11orf65) | NP_001338039.1:n.695-8034_695-8030delinsG... | |
| NM_001351834.1:c.8369_8373delinsGATAC (ATM) | NP_001338763.1:p.Arg2790= | |
| NR_147053.2:n.2302-8034_2302-8030delinsGTATC (C11orf65) | ||
| XM_005271414.4:c.788-8034_788-8030delinsGTATC (C11orf65) | XP_005271471.1:n.788-8034_788-8030delinsG... | |
| XM_005271415.4:c.732-8034_732-8030delinsGTATC (C11orf65) | XP_005271472.1:n.732-8034_732-8030delinsG... | |
| XM_005271562.5:c.8369_8373delinsGATAC (ATM) | XP_005271619.2:p.Arg2790= | |
| XM_006718843.4:c.8369_8373delinsGATAC (ATM) | XP_006718906.1:p.Arg2790= | |
| XM_006718845.2:c.4325_4329delinsGATAC (ATM) | XP_006718908.1:p.Arg1442= | |
| XM_011542640.2:c.788-2962_788-2958delinsGTATC (C11orf65) | XP_011540942.1:n.788-2962_788-2958delinsG... | |
| XM_011542643.2:c.732-2962_732-2958delinsGTATC (C11orf65) | XP_011540945.1:n.732-2962_732-2958delinsG... | |
| XM_011542840.3:c.8369_8373delinsGATAC (ATM) | XP_011541142.1:p.Arg2790= | |
| XM_011542842.3:c.8204_8208delinsGATAC (ATM) | XP_011541144.1:p.Arg2735= | |
| XM_011542843.2:c.8369_8373delinsGATAC (ATM) | XP_011541145.1:p.Arg2790= | |
| XM_011542844.3:c.7325_7329delinsGATAC (ATM) | XP_011541146.1:p.Arg2442= | |
| XM_011542845.2:c.7061_7065delinsGATAC (ATM) | XP_011541147.1:p.Arg2354= | |
| XM_017017247.1:c.904-2962_904-2958delinsGTATC (C11orf65) | XP_016872736.1:n.904-2962_904-2958delinsG... | |
| XM_017017789.2:c.8369_8373delinsGATAC (ATM) | XP_016873278.1:p.Arg2790= | |
| XM_017017790.2:c.8369_8373delinsGATAC (ATM) | XP_016873279.1:p.Arg2790= | |
| NM_001330368.2:c.641-34255_641-34251delinsGTATC (C11orf65) | NP_001317297.1:n.641-34255_641-34251delin... | |
| NM_001351110.2:c.695-8034_695-8030delinsGTATC (C11orf65) | NP_001338039.1:n.695-8034_695-8030delinsG... | |
| NM_001351834.2:c.8369_8373delinsGATAC (ATM) | NP_001338763.1:p.Arg2790= | |
| NM_000051.4:c.8369_8373delinsGATAC (ATM) MANE Select | NP_000042.3:p.Arg2790= | |
| NR_147053.3:n.2300-8034_2300-8030delinsGTATC (C11orf65) |