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.108331921_108331924delinsTTTA , CM000673.2:g.108331921_108331924delinsTTTA | GRCh38 |
| NC_000011.9:g.108202648_108202651delinsTTTA , CM000673.1:g.108202648_108202651delinsTTTA | GRCh37 |
| NC_000011.8:g.107707858_107707861delinsTTTA | NCBI36 |
| NG_009830.1:g.114090_114093delinsTTTA , LRG_135:g.114090_114093delinsTTTA | |
| NG_054724.1:g.142909_142912delinsTAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7672_7675delinsTTTA (ATM) | ENSP00000388058.2:p.Phe2558= | |
| ENST00000713593.1:c.*7143_*7146delinsTTTA (ATM) | ENSP00000518889.1:n.*7143_*7146delinsTTTA... | |
| ENST00000278616.9:c.7672_7675delinsTTTA (ATM) | ENSP00000278616.4:p.Phe2558= | |
| ENST00000525056.2:n.2091_2094delinsTTTA (ATM) | ||
| ENST00000525537.3:n.629_632delinsTTTA (ATM) | ||
| ENST00000638786.2:n.509_512delinsTTTA (ATM) | ||
| ENST00000682286.1:n.2429_2432delinsTTTA (ATM) | ||
| ENST00000682302.1:n.2090_2093delinsTTTA (ATM) | ||
| ENST00000683174.1:n.9156_9159delinsTTTA (ATM) | ||
| ENST00000683524.1:n.2896_2899delinsTTTA (ATM) | ||
| ENST00000684152.1:n.3343+364_3343+367delinsTTTA (ATM) | ||
| ENST00000684447.1:n.2456_2459delinsTTTA (ATM) | ||
| ENST00000527805.6:c.*2736_*2739delinsTTTA (ATM) | ENSP00000435747.2:n.*2736_*2739delinsTTTA... | |
| ENST00000675595.1:c.*2807_*2810delinsTTTA (ATM) | ENSP00000502563.1:n.*2807_*2810delinsTTTA... | |
| ENST00000675843.1:c.7672_7675delinsTTTA (ATM) MANE Select | ENSP00000501606.1:p.Phe2558= | |
| ENST00000278616.8:c.7672_7675delinsTTTA (ATM) | ENSP00000278616.4:p.Phe2558= | |
| ENST00000452508.6:c.7672_7675delinsTTTA (ATM) | ENSP00000388058.2:p.Phe2558= | |
| ENST00000524755.5:c.300-357_300-354delinsTAAA (C11orf65) | ||
| ENST00000524792.5:n.3887_3890delinsTTTA (ATM) | ||
| ENST00000525729.5:c.641-22853_641-22850delinsTAAA (C11orf65) | ENSP00000433395.1:n.641-22853_641-22850de... | |
| ENST00000527531.5:c.*1270-357_*1270-354delinsTAAA (C11orf65) | ENSP00000431706.1:n.*1270-357_*1270-354de... | |
| ENST00000533690.5:n.3076_3079delinsTTTA (ATM) | ||
| ENST00000615746.4:c.*1270-357_*1270-354delinsTAAA (C11orf65) | ENSP00000483537.1:n.*1270-357_*1270-354de... | |
| NM_000051.3:c.7672_7675delinsTTTA , LRG_135t1:c.7672_7675delinsTTTA (ATM) | NP_000042.3:p.Phe2558= | |
| XM_005271414.3:c.*39-357_*39-354delinsTAAA (C11orf65) | XP_005271471.1:n.*39-357_*39-354delinsTAA... | |
| XM_005271415.3:c.805-357_805-354delinsTAAA (C11orf65) | XP_005271472.1:n.805-357_805-354delinsTAA... | |
| XM_005271561.3:c.7672_7675delinsTTTA (ATM) | XP_005271618.2:p.Phe2558= | |
| XM_005271562.3:c.7672_7675delinsTTTA (ATM) | XP_005271619.2:p.Phe2558= | |
| XM_006718843.2:c.7672_7675delinsTTTA (ATM) | XP_006718906.1:p.Phe2558= | |
| XM_006718845.1:c.3628_3631delinsTTTA (ATM) | XP_006718908.1:p.Phe1210= | |
| XM_011542840.1:c.7672_7675delinsTTTA (ATM) | XP_011541142.1:p.Phe2558= | |
| XM_011542841.1:c.7672_7675delinsTTTA (ATM) | XP_011541143.1:p.Phe2558= | |
| XM_011542842.1:c.7507_7510delinsTTTA (ATM) | XP_011541144.1:p.Phe2503= | |
| XM_011542843.1:c.7672_7675delinsTTTA (ATM) | XP_011541145.1:p.Phe2558= | |
| XM_011542844.1:c.6628_6631delinsTTTA (ATM) | XP_011541146.1:p.Phe2210= | |
| XM_011542845.1:c.6364_6367delinsTTTA (ATM) | XP_011541147.1:p.Phe2122= | |
| XM_011542847.1:c.2743_2746delinsTTTA (ATM) | XP_011541149.1:p.Phe915= | |
| NM_001330368.1:c.641-22853_641-22850delinsTAAA (C11orf65) | NP_001317297.1:n.641-22853_641-22850delin... | |
| NM_001351110.1:c.*38+3296_*38+3299delinsTAAA (C11orf65) | NP_001338039.1:n.*38+3296_*38+3299delinsT... | |
| NM_001351834.1:c.7672_7675delinsTTTA (ATM) | NP_001338763.1:p.Phe2558= | |
| NR_147053.2:n.2375-357_2375-354delinsTAAA (C11orf65) | ||
| XM_005271414.4:c.*39-357_*39-354delinsTAAA (C11orf65) | XP_005271471.1:n.*39-357_*39-354delinsTAA... | |
| XM_005271415.4:c.805-357_805-354delinsTAAA (C11orf65) | XP_005271472.1:n.805-357_805-354delinsTAA... | |
| XM_005271562.5:c.7672_7675delinsTTTA (ATM) | XP_005271619.2:p.Phe2558= | |
| XM_006718843.4:c.7672_7675delinsTTTA (ATM) | XP_006718906.1:p.Phe2558= | |
| XM_006718845.2:c.3628_3631delinsTTTA (ATM) | XP_006718908.1:p.Phe1210= | |
| XM_011542840.3:c.7672_7675delinsTTTA (ATM) | XP_011541142.1:p.Phe2558= | |
| XM_011542842.3:c.7507_7510delinsTTTA (ATM) | XP_011541144.1:p.Phe2503= | |
| XM_011542843.2:c.7672_7675delinsTTTA (ATM) | XP_011541145.1:p.Phe2558= | |
| XM_011542844.3:c.6628_6631delinsTTTA (ATM) | XP_011541146.1:p.Phe2210= | |
| XM_011542845.2:c.6364_6367delinsTTTA (ATM) | XP_011541147.1:p.Phe2122= | |
| XM_017017789.2:c.7672_7675delinsTTTA (ATM) | XP_016873278.1:p.Phe2558= | |
| XM_017017790.2:c.7672_7675delinsTTTA (ATM) | XP_016873279.1:p.Phe2558= | |
| NM_001330368.2:c.641-22853_641-22850delinsTAAA (C11orf65) | NP_001317297.1:n.641-22853_641-22850delin... | |
| NM_001351110.2:c.*38+3296_*38+3299delinsTAAA (C11orf65) | NP_001338039.1:n.*38+3296_*38+3299delinsT... | |
| NM_001351834.2:c.7672_7675delinsTTTA (ATM) | NP_001338763.1:p.Phe2558= | |
| NM_000051.4:c.7672_7675delinsTTTA (ATM) MANE Select | NP_000042.3:p.Phe2558= | |
| NR_147053.3:n.2373-357_2373-354delinsTAAA (C11orf65) |