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.108325384_108325392delinsATTTTAGTT , CM000673.2:g.108325384_108325392delinsATTTTAGTT | GRCh38 |
| NC_000011.9:g.108196111_108196119delinsATTTTAGTT , CM000673.1:g.108196111_108196119delinsATTTTAGTT | GRCh37 |
| NC_000011.8:g.107701321_107701329delinsATTTTAGTT | NCBI36 |
| NG_009830.1:g.107553_107561delinsATTTTAGTT , LRG_135:g.107553_107561delinsATTTTAGTT | |
| NG_054724.1:g.149441_149449delinsAACTAAAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.6647_6655delinsATTTTAGTT (ATM) | ENSP00000388058.2:p.Asp2216= | |
| ENST00000713593.1:c.*6118_*6126delinsATTTTAGTT (ATM) | ENSP00000518889.1:n.*6118_*6126delinsATTTTAGTT | |
| ENST00000278616.9:c.6647_6655delinsATTTTAGTT (ATM) | ENSP00000278616.4:p.Asp2216= | |
| ENST00000525056.2:n.1066_1074delinsATTTTAGTT (ATM) | ||
| ENST00000682286.1:n.1404_1412delinsATTTTAGTT (ATM) | ||
| ENST00000682302.1:n.1065_1073delinsATTTTAGTT (ATM) | ||
| ENST00000683174.1:n.8131_8139delinsATTTTAGTT (ATM) | ||
| ENST00000683524.1:n.1871_1879delinsATTTTAGTT (ATM) | ||
| ENST00000684152.1:n.2361_2369delinsATTTTAGTT (ATM) | ||
| ENST00000527805.6:c.*1711_*1719delinsATTTTAGTT (ATM) | ENSP00000435747.2:n.*1711_*1719delinsATTTTAGTT | |
| ENST00000675595.1:c.*1782_*1790delinsATTTTAGTT (ATM) | ENSP00000502563.1:n.*1782_*1790delinsATTTTAGTT | |
| ENST00000675843.1:c.6647_6655delinsATTTTAGTT (ATM) MANE Select | ENSP00000501606.1:p.Asp2216= | |
| ENST00000278616.8:c.6647_6655delinsATTTTAGTT (ATM) | ENSP00000278616.4:p.Asp2216= | |
| ENST00000452508.6:c.6647_6655delinsATTTTAGTT (ATM) | ENSP00000388058.2:p.Asp2216= | |
| ENST00000524792.5:n.2862_2870delinsATTTTAGTT (ATM) | ||
| ENST00000525729.5:c.641-16321_641-16313delinsAACTAAAAT (C11orf65) | ENSP00000433395.1:n.641-16321_641-16313delinsAACTAAAAT | |
| ENST00000533690.5:n.2051_2059delinsATTTTAGTT (ATM) | ||
| NM_000051.3:c.6647_6655delinsATTTTAGTT , LRG_135t1:c.6647_6655delinsATTTTAGTT (ATM) | NP_000042.3:p.Asp2216= | |
| XM_005271561.3:c.6647_6655delinsATTTTAGTT (ATM) | XP_005271618.2:p.Asp2216= | |
| XM_005271562.3:c.6647_6655delinsATTTTAGTT (ATM) | XP_005271619.2:p.Asp2216= | |
| XM_006718843.2:c.6647_6655delinsATTTTAGTT (ATM) | XP_006718906.1:p.Asp2216= | |
| XM_006718845.1:c.2603_2611delinsATTTTAGTT (ATM) | XP_006718908.1:p.Asp868= | |
| XM_011542840.1:c.6647_6655delinsATTTTAGTT (ATM) | XP_011541142.1:p.Asp2216= | |
| XM_011542841.1:c.6647_6655delinsATTTTAGTT (ATM) | XP_011541143.1:p.Asp2216= | |
| XM_011542842.1:c.6482_6490delinsATTTTAGTT (ATM) | XP_011541144.1:p.Asp2161= | |
| XM_011542843.1:c.6647_6655delinsATTTTAGTT (ATM) | XP_011541145.1:p.Asp2216= | |
| XM_011542844.1:c.5603_5611delinsATTTTAGTT (ATM) | XP_011541146.1:p.Asp1868= | |
| XM_011542845.1:c.5339_5347delinsATTTTAGTT (ATM) | XP_011541147.1:p.Asp1780= | |
| XM_011542847.1:c.1718_1726delinsATTTTAGTT (ATM) | XP_011541149.1:p.Asp573= | |
| NM_001330368.1:c.641-16321_641-16313delinsAACTAAAAT (C11orf65) | NP_001317297.1:n.641-16321_641-16313delinsAACTAAAAT | |
| NM_001351110.1:c.*38+9828_*38+9836delinsAACTAAAAT (C11orf65) | NP_001338039.1:n.*38+9828_*38+9836delinsAACTAAAAT | |
| NM_001351834.1:c.6647_6655delinsATTTTAGTT (ATM) | NP_001338763.1:p.Asp2216= | |
| XM_005271562.5:c.6647_6655delinsATTTTAGTT (ATM) | XP_005271619.2:p.Asp2216= | |
| XM_006718843.4:c.6647_6655delinsATTTTAGTT (ATM) | XP_006718906.1:p.Asp2216= | |
| XM_006718845.2:c.2603_2611delinsATTTTAGTT (ATM) | XP_006718908.1:p.Asp868= | |
| XM_011542840.3:c.6647_6655delinsATTTTAGTT (ATM) | XP_011541142.1:p.Asp2216= | |
| XM_011542842.3:c.6482_6490delinsATTTTAGTT (ATM) | XP_011541144.1:p.Asp2161= | |
| XM_011542843.2:c.6647_6655delinsATTTTAGTT (ATM) | XP_011541145.1:p.Asp2216= | |
| XM_011542844.3:c.5603_5611delinsATTTTAGTT (ATM) | XP_011541146.1:p.Asp1868= | |
| XM_011542845.2:c.5339_5347delinsATTTTAGTT (ATM) | XP_011541147.1:p.Asp1780= | |
| XM_017017789.2:c.6647_6655delinsATTTTAGTT (ATM) | XP_016873278.1:p.Asp2216= | |
| XM_017017790.2:c.6647_6655delinsATTTTAGTT (ATM) | XP_016873279.1:p.Asp2216= | |
| NM_001330368.2:c.641-16321_641-16313delinsAACTAAAAT (C11orf65) | NP_001317297.1:n.641-16321_641-16313delinsAACTAAAAT | |
| NM_001351110.2:c.*38+9828_*38+9836delinsAACTAAAAT (C11orf65) | NP_001338039.1:n.*38+9828_*38+9836delinsAACTAAAAT | |
| NM_001351834.2:c.6647_6655delinsATTTTAGTT (ATM) | NP_001338763.1:p.Asp2216= | |
| NM_000051.4:c.6647_6655delinsATTTTAGTT (ATM) MANE Select | NP_000042.3:p.Asp2216= |