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.108331884_108331893delinsCTCTAGAATT , CM000673.2:g.108331884_108331893delinsCTCTAGAATT | GRCh38 |
| NC_000011.9:g.108202611_108202620delinsCTCTAGAATT , CM000673.1:g.108202611_108202620delinsCTCTAGAATT | GRCh37 |
| NC_000011.8:g.107707821_107707830delinsCTCTAGAATT | NCBI36 |
| NG_009830.1:g.114053_114062delinsCTCTAGAATT , LRG_135:g.114053_114062delinsCTCTAGAATT | |
| NG_054724.1:g.142940_142949delinsAATTCTAGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7635_7644delinsCTCTAGAATT (ATM) | ENSP00000388058.2:p.Ile2545= | |
| ENST00000713593.1:c.*7106_*7115delinsCTCTAGAATT (ATM) | ENSP00000518889.1:n.*7106_*7115delinsCTCTAGAATT | |
| ENST00000278616.9:c.7635_7644delinsCTCTAGAATT (ATM) | ENSP00000278616.4:p.Ile2545= | |
| ENST00000525056.2:n.2054_2063delinsCTCTAGAATT (ATM) | ||
| ENST00000525537.3:n.592_601delinsCTCTAGAATT (ATM) | ||
| ENST00000638786.2:n.472_481delinsCTCTAGAATT (ATM) | ||
| ENST00000682286.1:n.2392_2401delinsCTCTAGAATT (ATM) | ||
| ENST00000682302.1:n.2053_2062delinsCTCTAGAATT (ATM) | ||
| ENST00000683174.1:n.9119_9128delinsCTCTAGAATT (ATM) | ||
| ENST00000683524.1:n.2859_2868delinsCTCTAGAATT (ATM) | ||
| ENST00000684152.1:n.3343+327_3343+336delinsCTCTAGAATT (ATM) | ||
| ENST00000684447.1:n.2419_2428delinsCTCTAGAATT (ATM) | ||
| ENST00000527805.6:c.*2699_*2708delinsCTCTAGAATT (ATM) | ENSP00000435747.2:n.*2699_*2708delinsCTCTAGAATT | |
| ENST00000675595.1:c.*2770_*2779delinsCTCTAGAATT (ATM) | ENSP00000502563.1:n.*2770_*2779delinsCTCTAGAATT | |
| ENST00000675843.1:c.7635_7644delinsCTCTAGAATT (ATM) MANE Select | ENSP00000501606.1:p.Ile2545= | |
| ENST00000278616.8:c.7635_7644delinsCTCTAGAATT (ATM) | ENSP00000278616.4:p.Ile2545= | |
| ENST00000452508.6:c.7635_7644delinsCTCTAGAATT (ATM) | ENSP00000388058.2:p.Ile2545= | |
| ENST00000524755.5:c.300-326_300-317delinsAATTCTAGAG (C11orf65) | ||
| ENST00000524792.5:n.3850_3859delinsCTCTAGAATT (ATM) | ||
| ENST00000525729.5:c.641-22822_641-22813delinsAATTCTAGAG (C11orf65) | ENSP00000433395.1:n.641-22822_641-22813delinsAATTCTAGAG | |
| ENST00000527531.5:c.*1270-326_*1270-317delinsAATTCTAGAG (C11orf65) | ENSP00000431706.1:n.*1270-326_*1270-317delinsAATTCTAGAG | |
| ENST00000533690.5:n.3039_3048delinsCTCTAGAATT (ATM) | ||
| ENST00000615746.4:c.*1270-326_*1270-317delinsAATTCTAGAG (C11orf65) | ENSP00000483537.1:n.*1270-326_*1270-317delinsAATTCTAGAG | |
| NM_000051.3:c.7635_7644delinsCTCTAGAATT , LRG_135t1:c.7635_7644delinsCTCTAGAATT (ATM) | NP_000042.3:p.Ile2545= | |
| XM_005271414.3:c.*39-326_*39-317delinsAATTCTAGAG (C11orf65) | XP_005271471.1:n.*39-326_*39-317delinsAATTCTAGAG | |
| XM_005271415.3:c.805-326_805-317delinsAATTCTAGAG (C11orf65) | XP_005271472.1:n.805-326_805-317delinsAATTCTAGAG | |
| XM_005271561.3:c.7635_7644delinsCTCTAGAATT (ATM) | XP_005271618.2:p.Ile2545= | |
| XM_005271562.3:c.7635_7644delinsCTCTAGAATT (ATM) | XP_005271619.2:p.Ile2545= | |
| XM_006718843.2:c.7635_7644delinsCTCTAGAATT (ATM) | XP_006718906.1:p.Ile2545= | |
| XM_006718845.1:c.3591_3600delinsCTCTAGAATT (ATM) | XP_006718908.1:p.Ile1197= | |
| XM_011542840.1:c.7635_7644delinsCTCTAGAATT (ATM) | XP_011541142.1:p.Ile2545= | |
| XM_011542841.1:c.7635_7644delinsCTCTAGAATT (ATM) | XP_011541143.1:p.Ile2545= | |
| XM_011542842.1:c.7470_7479delinsCTCTAGAATT (ATM) | XP_011541144.1:p.Ile2490= | |
| XM_011542843.1:c.7635_7644delinsCTCTAGAATT (ATM) | XP_011541145.1:p.Ile2545= | |
| XM_011542844.1:c.6591_6600delinsCTCTAGAATT (ATM) | XP_011541146.1:p.Ile2197= | |
| XM_011542845.1:c.6327_6336delinsCTCTAGAATT (ATM) | XP_011541147.1:p.Ile2109= | |
| XM_011542847.1:c.2706_2715delinsCTCTAGAATT (ATM) | XP_011541149.1:p.Ile902= | |
| NM_001330368.1:c.641-22822_641-22813delinsAATTCTAGAG (C11orf65) | NP_001317297.1:n.641-22822_641-22813delinsAATTCTAGAG | |
| NM_001351110.1:c.*38+3327_*38+3336delinsAATTCTAGAG (C11orf65) | NP_001338039.1:n.*38+3327_*38+3336delinsAATTCTAGAG | |
| NM_001351834.1:c.7635_7644delinsCTCTAGAATT (ATM) | NP_001338763.1:p.Ile2545= | |
| NR_147053.2:n.2375-326_2375-317delinsAATTCTAGAG (C11orf65) | ||
| XM_005271414.4:c.*39-326_*39-317delinsAATTCTAGAG (C11orf65) | XP_005271471.1:n.*39-326_*39-317delinsAATTCTAGAG | |
| XM_005271415.4:c.805-326_805-317delinsAATTCTAGAG (C11orf65) | XP_005271472.1:n.805-326_805-317delinsAATTCTAGAG | |
| XM_005271562.5:c.7635_7644delinsCTCTAGAATT (ATM) | XP_005271619.2:p.Ile2545= | |
| XM_006718843.4:c.7635_7644delinsCTCTAGAATT (ATM) | XP_006718906.1:p.Ile2545= | |
| XM_006718845.2:c.3591_3600delinsCTCTAGAATT (ATM) | XP_006718908.1:p.Ile1197= | |
| XM_011542840.3:c.7635_7644delinsCTCTAGAATT (ATM) | XP_011541142.1:p.Ile2545= | |
| XM_011542842.3:c.7470_7479delinsCTCTAGAATT (ATM) | XP_011541144.1:p.Ile2490= | |
| XM_011542843.2:c.7635_7644delinsCTCTAGAATT (ATM) | XP_011541145.1:p.Ile2545= | |
| XM_011542844.3:c.6591_6600delinsCTCTAGAATT (ATM) | XP_011541146.1:p.Ile2197= | |
| XM_011542845.2:c.6327_6336delinsCTCTAGAATT (ATM) | XP_011541147.1:p.Ile2109= | |
| XM_017017789.2:c.7635_7644delinsCTCTAGAATT (ATM) | XP_016873278.1:p.Ile2545= | |
| XM_017017790.2:c.7635_7644delinsCTCTAGAATT (ATM) | XP_016873279.1:p.Ile2545= | |
| NM_001330368.2:c.641-22822_641-22813delinsAATTCTAGAG (C11orf65) | NP_001317297.1:n.641-22822_641-22813delinsAATTCTAGAG | |
| NM_001351110.2:c.*38+3327_*38+3336delinsAATTCTAGAG (C11orf65) | NP_001338039.1:n.*38+3327_*38+3336delinsAATTCTAGAG | |
| NM_001351834.2:c.7635_7644delinsCTCTAGAATT (ATM) | NP_001338763.1:p.Ile2545= | |
| NM_000051.4:c.7635_7644delinsCTCTAGAATT (ATM) MANE Select | NP_000042.3:p.Ile2545= | |
| NR_147053.3:n.2373-326_2373-317delinsAATTCTAGAG (C11orf65) |