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.108343274_108343275delinsTC , CM000673.2:g.108343274_108343275delinsTC | GRCh38 |
| NC_000011.9:g.108214001_108214002delinsTC , CM000673.1:g.108214001_108214002delinsTC | GRCh37 |
| NC_000011.8:g.107719211_107719212delinsTC | NCBI36 |
| NG_009830.1:g.125443_125444delinsTC , LRG_135:g.125443_125444delinsTC | |
| NG_054724.1:g.131558_131559delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.8321_8322delinsTC (ATM) | ENSP00000388058.2:p.Val2774= | |
| ENST00000713593.1:c.*7792_*7793delinsTC (ATM) | ENSP00000518889.1:n.*7792_*7793delinsTC | |
| ENST00000278616.9:c.8321_8322delinsTC (ATM) | ENSP00000278616.4:p.Val2774= | |
| ENST00000638786.2:n.1019_1020delinsTC (ATM) | ||
| ENST00000682286.1:n.3078_3079delinsTC (ATM) | ||
| ENST00000682302.1:n.2739_2740delinsTC (ATM) | ||
| ENST00000683174.1:n.9805_9806delinsTC (ATM) | ||
| ENST00000683524.1:n.3545_3546delinsTC (ATM) | ||
| ENST00000684152.1:n.3737_3738delinsTC (ATM) | ||
| ENST00000684180.1:n.795_796delinsTC (ATM) | ||
| ENST00000684447.1:n.4814_4815delinsTC (ATM) | ||
| ENST00000527805.6:c.*3385_*3386delinsTC (ATM) | ENSP00000435747.2:n.*3385_*3386delinsTC | |
| ENST00000675595.1:c.*3456_*3457delinsTC (ATM) | ENSP00000502563.1:n.*3456_*3457delinsTC | |
| ENST00000675843.1:c.8321_8322delinsTC (ATM) MANE Select | ENSP00000501606.1:p.Val2774= | |
| ENST00000278616.8:c.8321_8322delinsTC (ATM) | ENSP00000278616.4:p.Val2774= | |
| ENST00000452508.6:c.8321_8322delinsTC (ATM) | ENSP00000388058.2:p.Val2774= | |
| ENST00000524755.5:c.227-7983_227-7982delinsGA (C11orf65) | ||
| ENST00000524792.5:n.4536_4537delinsTC (ATM) | ||
| ENST00000525729.5:c.641-34204_641-34203delinsGA (C11orf65) | ENSP00000433395.1:n.641-34204_641-34203de... | |
| ENST00000526725.1:n.272-2911_272-2910delinsGA (C11orf65) | ||
| ENST00000527531.5:c.*1197-7983_*1197-7982delinsGA (C11orf65) | ENSP00000431706.1:n.*1197-7983_*1197-7982... | |
| ENST00000615746.4:c.*1197-7983_*1197-7982delinsGA (C11orf65) | ENSP00000483537.1:n.*1197-7983_*1197-7982... | |
| NM_000051.3:c.8321_8322delinsTC , LRG_135t1:c.8321_8322delinsTC (ATM) | NP_000042.3:p.Val2774= | |
| XM_005271414.3:c.788-7983_788-7982delinsGA (C11orf65) | XP_005271471.1:n.788-7983_788-7982delinsG... | |
| XM_005271415.3:c.732-7983_732-7982delinsGA (C11orf65) | XP_005271472.1:n.732-7983_732-7982delinsG... | |
| XM_005271561.3:c.8321_8322delinsTC (ATM) | XP_005271618.2:p.Val2774= | |
| XM_005271562.3:c.8321_8322delinsTC (ATM) | XP_005271619.2:p.Val2774= | |
| XM_006718843.2:c.8321_8322delinsTC (ATM) | XP_006718906.1:p.Val2774= | |
| XM_006718845.1:c.4277_4278delinsTC (ATM) | XP_006718908.1:p.Val1426= | |
| XM_011542640.1:c.788-2911_788-2910delinsGA (C11orf65) | XP_011540942.1:n.788-2911_788-2910delinsG... | |
| XM_011542643.1:c.732-2911_732-2910delinsGA (C11orf65) | XP_011540945.1:n.732-2911_732-2910delinsG... | |
| XM_011542840.1:c.8321_8322delinsTC (ATM) | XP_011541142.1:p.Val2774= | |
| XM_011542841.1:c.8321_8322delinsTC (ATM) | XP_011541143.1:p.Val2774= | |
| XM_011542842.1:c.8156_8157delinsTC (ATM) | XP_011541144.1:p.Val2719= | |
| XM_011542843.1:c.8321_8322delinsTC (ATM) | XP_011541145.1:p.Val2774= | |
| XM_011542844.1:c.7277_7278delinsTC (ATM) | XP_011541146.1:p.Val2426= | |
| XM_011542845.1:c.7013_7014delinsTC (ATM) | XP_011541147.1:p.Val2338= | |
| XM_011542847.1:c.3392_3393delinsTC (ATM) | XP_011541149.1:p.Val1131= | |
| NM_001330368.1:c.641-34204_641-34203delinsGA (C11orf65) | NP_001317297.1:n.641-34204_641-34203delin... | |
| NM_001351110.1:c.695-7983_695-7982delinsGA (C11orf65) | NP_001338039.1:n.695-7983_695-7982delinsG... | |
| NM_001351834.1:c.8321_8322delinsTC (ATM) | NP_001338763.1:p.Val2774= | |
| NR_147053.2:n.2302-7983_2302-7982delinsGA (C11orf65) | ||
| XM_005271414.4:c.788-7983_788-7982delinsGA (C11orf65) | XP_005271471.1:n.788-7983_788-7982delinsG... | |
| XM_005271415.4:c.732-7983_732-7982delinsGA (C11orf65) | XP_005271472.1:n.732-7983_732-7982delinsG... | |
| XM_005271562.5:c.8321_8322delinsTC (ATM) | XP_005271619.2:p.Val2774= | |
| XM_006718843.4:c.8321_8322delinsTC (ATM) | XP_006718906.1:p.Val2774= | |
| XM_006718845.2:c.4277_4278delinsTC (ATM) | XP_006718908.1:p.Val1426= | |
| XM_011542640.2:c.788-2911_788-2910delinsGA (C11orf65) | XP_011540942.1:n.788-2911_788-2910delinsG... | |
| XM_011542643.2:c.732-2911_732-2910delinsGA (C11orf65) | XP_011540945.1:n.732-2911_732-2910delinsG... | |
| XM_011542840.3:c.8321_8322delinsTC (ATM) | XP_011541142.1:p.Val2774= | |
| XM_011542842.3:c.8156_8157delinsTC (ATM) | XP_011541144.1:p.Val2719= | |
| XM_011542843.2:c.8321_8322delinsTC (ATM) | XP_011541145.1:p.Val2774= | |
| XM_011542844.3:c.7277_7278delinsTC (ATM) | XP_011541146.1:p.Val2426= | |
| XM_011542845.2:c.7013_7014delinsTC (ATM) | XP_011541147.1:p.Val2338= | |
| XM_017017247.1:c.904-2911_904-2910delinsGA (C11orf65) | XP_016872736.1:n.904-2911_904-2910delinsG... | |
| XM_017017789.2:c.8321_8322delinsTC (ATM) | XP_016873278.1:p.Val2774= | |
| XM_017017790.2:c.8321_8322delinsTC (ATM) | XP_016873279.1:p.Val2774= | |
| NM_001330368.2:c.641-34204_641-34203delinsGA (C11orf65) | NP_001317297.1:n.641-34204_641-34203delin... | |
| NM_001351110.2:c.695-7983_695-7982delinsGA (C11orf65) | NP_001338039.1:n.695-7983_695-7982delinsG... | |
| NM_001351834.2:c.8321_8322delinsTC (ATM) | NP_001338763.1:p.Val2774= | |
| NM_000051.4:c.8321_8322delinsTC (ATM) MANE Select | NP_000042.3:p.Val2774= | |
| NR_147053.3:n.2300-7983_2300-7982delinsGA (C11orf65) |