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.108331923_108331935delinsA , CM000673.2:g.108331923_108331935delinsA | GRCh38 |
| NC_000011.9:g.108202650_108202662delinsA , CM000673.1:g.108202650_108202662delinsA | GRCh37 |
| NC_000011.8:g.107707860_107707872delinsA | NCBI36 |
| NG_009830.1:g.114092_114104delinsA , LRG_135:g.114092_114104delinsA | |
| NG_054724.1:g.142898_142910delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7674_7686delinsA (ATM) | ENSP00000388058.2:p.Phe2558_Ala2562delins... | |
| ENST00000713593.1:c.*7145_*7157delinsA (ATM) | ENSP00000518889.1:n.*7145_*7157delinsA | |
| ENST00000278616.9:c.7674_7686delinsA (ATM) | ENSP00000278616.4:p.Phe2558_Ala2562delins... | |
| ENST00000525056.2:n.2093_2105delinsA (ATM) | ||
| ENST00000525537.3:n.631_643delinsA (ATM) | ||
| ENST00000638786.2:n.511_523delinsA (ATM) | ||
| ENST00000682286.1:n.2431_2443delinsA (ATM) | ||
| ENST00000682302.1:n.2092_2104delinsA (ATM) | ||
| ENST00000683174.1:n.9158_9170delinsA (ATM) | ||
| ENST00000683524.1:n.2898_2910delinsA (ATM) | ||
| ENST00000684152.1:n.3343+366_3343+378delinsA (ATM) | ||
| ENST00000684447.1:n.2458_2470delinsA (ATM) | ||
| ENST00000527805.6:c.*2738_*2750delinsA (ATM) | ENSP00000435747.2:n.*2738_*2750delinsA | |
| ENST00000675595.1:c.*2809_*2821delinsA (ATM) | ENSP00000502563.1:n.*2809_*2821delinsA | |
| ENST00000675843.1:c.7674_7686delinsA (ATM) MANE Select | ENSP00000501606.1:p.Phe2558_Ala2562delins... | |
| ENST00000278616.8:c.7674_7686delinsA (ATM) | ENSP00000278616.4:p.Phe2558_Ala2562delins... | |
| ENST00000452508.6:c.7674_7686delinsA (ATM) | ENSP00000388058.2:p.Phe2558_Ala2562delins... | |
| ENST00000524755.5:c.300-368_300-356delinsT (C11orf65) | ||
| ENST00000524792.5:n.3889_3901delinsA (ATM) | ||
| ENST00000525729.5:c.641-22864_641-22852delinsT (C11orf65) | ENSP00000433395.1:n.641-22864_641-22852de... | |
| ENST00000527531.5:c.*1270-368_*1270-356delinsT (C11orf65) | ENSP00000431706.1:n.*1270-368_*1270-356de... | |
| ENST00000533690.5:n.3078_3090delinsA (ATM) | ||
| ENST00000615746.4:c.*1270-368_*1270-356delinsT (C11orf65) | ENSP00000483537.1:n.*1270-368_*1270-356de... | |
| NM_000051.3:c.7674_7686delinsA , LRG_135t1:c.7674_7686delinsA (ATM) | NP_000042.3:p.Phe2558_Ala2562delinsLeu | |
| XM_005271414.3:c.*39-368_*39-356delinsT (C11orf65) | XP_005271471.1:n.*39-368_*39-356delinsT | |
| XM_005271415.3:c.805-368_805-356delinsT (C11orf65) | XP_005271472.1:n.805-368_805-356delinsT | |
| XM_005271561.3:c.7674_7686delinsA (ATM) | XP_005271618.2:p.Phe2558_Ala2562delinsLeu... | |
| XM_005271562.3:c.7674_7686delinsA (ATM) | XP_005271619.2:p.Phe2558_Ala2562delinsLeu... | |
| XM_006718843.2:c.7674_7686delinsA (ATM) | XP_006718906.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_006718845.1:c.3630_3642delinsA (ATM) | XP_006718908.1:p.Phe1210_Ala1214delinsLeu... | |
| XM_011542840.1:c.7674_7686delinsA (ATM) | XP_011541142.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_011542841.1:c.7674_7686delinsA (ATM) | XP_011541143.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_011542842.1:c.7509_7521delinsA (ATM) | XP_011541144.1:p.Phe2503_Ala2507delinsLeu... | |
| XM_011542843.1:c.7674_7686delinsA (ATM) | XP_011541145.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_011542844.1:c.6630_6642delinsA (ATM) | XP_011541146.1:p.Phe2210_Ala2214delinsLeu... | |
| XM_011542845.1:c.6366_6378delinsA (ATM) | XP_011541147.1:p.Phe2122_Ala2126delinsLeu... | |
| XM_011542847.1:c.2745_2757delinsA (ATM) | XP_011541149.1:p.Phe915_Ala919delinsLeu | |
| NM_001330368.1:c.641-22864_641-22852delinsT (C11orf65) | NP_001317297.1:n.641-22864_641-22852delin... | |
| NM_001351110.1:c.*38+3285_*38+3297delinsT (C11orf65) | NP_001338039.1:n.*38+3285_*38+3297delinsT... | |
| NM_001351834.1:c.7674_7686delinsA (ATM) | NP_001338763.1:p.Phe2558_Ala2562delinsLeu... | |
| NR_147053.2:n.2375-368_2375-356delinsT (C11orf65) | ||
| XM_005271414.4:c.*39-368_*39-356delinsT (C11orf65) | XP_005271471.1:n.*39-368_*39-356delinsT | |
| XM_005271415.4:c.805-368_805-356delinsT (C11orf65) | XP_005271472.1:n.805-368_805-356delinsT | |
| XM_005271562.5:c.7674_7686delinsA (ATM) | XP_005271619.2:p.Phe2558_Ala2562delinsLeu... | |
| XM_006718843.4:c.7674_7686delinsA (ATM) | XP_006718906.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_006718845.2:c.3630_3642delinsA (ATM) | XP_006718908.1:p.Phe1210_Ala1214delinsLeu... | |
| XM_011542840.3:c.7674_7686delinsA (ATM) | XP_011541142.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_011542842.3:c.7509_7521delinsA (ATM) | XP_011541144.1:p.Phe2503_Ala2507delinsLeu... | |
| XM_011542843.2:c.7674_7686delinsA (ATM) | XP_011541145.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_011542844.3:c.6630_6642delinsA (ATM) | XP_011541146.1:p.Phe2210_Ala2214delinsLeu... | |
| XM_011542845.2:c.6366_6378delinsA (ATM) | XP_011541147.1:p.Phe2122_Ala2126delinsLeu... | |
| XM_017017789.2:c.7674_7686delinsA (ATM) | XP_016873278.1:p.Phe2558_Ala2562delinsLeu... | |
| XM_017017790.2:c.7674_7686delinsA (ATM) | XP_016873279.1:p.Phe2558_Ala2562delinsLeu... | |
| NM_001330368.2:c.641-22864_641-22852delinsT (C11orf65) | NP_001317297.1:n.641-22864_641-22852delin... | |
| NM_001351110.2:c.*38+3285_*38+3297delinsT (C11orf65) | NP_001338039.1:n.*38+3285_*38+3297delinsT... | |
| NM_001351834.2:c.7674_7686delinsA (ATM) | NP_001338763.1:p.Phe2558_Ala2562delinsLeu... | |
| NM_000051.4:c.7674_7686delinsA (ATM) MANE Select | NP_000042.3:p.Phe2558_Ala2562delinsLeu | |
| NR_147053.3:n.2373-368_2373-356delinsT (C11orf65) |