SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108316084_108316085insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT , CM000673.2:g.108316084_108316085insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT | GRCh38 |
| NC_000011.9:g.108186811_108186812insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT , CM000673.1:g.108186811_108186812insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT | GRCh37 |
| NC_000011.8:g.107692021_107692022insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT | NCBI36 |
| NG_009830.1:g.98253_98254insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT , LRG_135:g.98253_98254insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT | |
| NG_054724.1:g.158757_158758insTTGTTTCCATGTTTTCAGGATCTTCTCTTAGAAATCTACAGAAGTATAGGGGATTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ENSP00000388058.2:p.Ser2057TyrfsTer7 | |
| ENST00000713593.1:c.*5640_*5641insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ENSP00000518889.1:n.*5640_*5641insATACTTCTGTAGATTTCTAAGAGAAGA... | |
| ENST00000278616.9:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ENSP00000278616.4:p.Ser2057TyrfsTer7 | |
| ENST00000525056.2:n.588_589insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000682286.1:n.926_927insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000682302.1:n.587_588insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000683174.1:n.7653_7654insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000683524.1:n.1393_1394insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000684152.1:n.1883_1884insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000527805.6:c.*1233_*1234insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ENSP00000435747.2:n.*1233_*1234insATACTTCTGTAGATTTCTAAGAGAAGA... | |
| ENST00000675595.1:c.*1233_*1234insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ENSP00000502563.1:n.*1233_*1234insATACTTCTGTAGATTTCTAAGAGAAGA... | |
| ENST00000675843.1:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) MANE Select | ENSP00000501606.1:p.Ser2057TyrfsTer7 | |
| ENST00000278616.8:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ENSP00000278616.4:p.Ser2057TyrfsTer7 | |
| ENST00000452508.6:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ENSP00000388058.2:p.Ser2057TyrfsTer7 | |
| ENST00000524792.5:n.2384_2385insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000525729.5:c.641-7005_641-7004insTTGTTTCCATGTTTTCAGGATCTTCTCTTAGAAATCTACAGAAGTATAGGGGATTG (C11orf65) | ENSP00000433395.1:n.641-7005_641-7004insTTGTTTCCATGTTTTCAGGAT... | |
| ENST00000532765.1:n.486_487insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| ENST00000533690.5:n.1573_1574insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | ||
| NM_000051.3:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT , LRG_135t1:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | NP_000042.3:p.Ser2057TyrfsTer7 | |
| XM_005271561.3:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_005271618.2:p.Ser2057TyrfsTer7 | |
| XM_005271562.3:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_005271619.2:p.Ser2057TyrfsTer7 | |
| XM_006718843.2:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_006718906.1:p.Ser2057TyrfsTer7 | |
| XM_006718845.1:c.2125_2126insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_006718908.1:p.Ser709TyrfsTer7 | |
| XM_011542840.1:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541142.1:p.Ser2057TyrfsTer7 | |
| XM_011542841.1:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541143.1:p.Ser2057TyrfsTer7 | |
| XM_011542842.1:c.6004_6005insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541144.1:p.Ser2002TyrfsTer7 | |
| XM_011542843.1:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541145.1:p.Ser2057TyrfsTer7 | |
| XM_011542844.1:c.5125_5126insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541146.1:p.Ser1709TyrfsTer7 | |
| XM_011542845.1:c.4861_4862insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541147.1:p.Ser1621TyrfsTer7 | |
| XM_011542847.1:c.1240_1241insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541149.1:p.Ser414TyrfsTer7 | |
| NM_001330368.1:c.641-7005_641-7004insTTGTTTCCATGTTTTCAGGATCTTCTCTTAGAAATCTACAGAAGTATAGGGGATTG (C11orf65) | NP_001317297.1:n.641-7005_641-7004insTTGTTTCCATGTTTTCAGGATCTT... | |
| NM_001351110.1:c.*39-7005_*39-7004insTTGTTTCCATGTTTTCAGGATCTTCTCTTAGAAATCTACAGAAGTATAGGGGATTG (C11orf65) | NP_001338039.1:n.*39-7005_*39-7004insTTGTTTCCATGTTTTCAGGATCTT... | |
| NM_001351834.1:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | NP_001338763.1:p.Ser2057TyrfsTer7 | |
| XM_005271562.5:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_005271619.2:p.Ser2057TyrfsTer7 | |
| XM_006718843.4:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_006718906.1:p.Ser2057TyrfsTer7 | |
| XM_006718845.2:c.2125_2126insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_006718908.1:p.Ser709TyrfsTer7 | |
| XM_011542840.3:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541142.1:p.Ser2057TyrfsTer7 | |
| XM_011542842.3:c.6004_6005insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541144.1:p.Ser2002TyrfsTer7 | |
| XM_011542843.2:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541145.1:p.Ser2057TyrfsTer7 | |
| XM_011542844.3:c.5125_5126insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541146.1:p.Ser1709TyrfsTer7 | |
| XM_011542845.2:c.4861_4862insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_011541147.1:p.Ser1621TyrfsTer7 | |
| XM_017017789.2:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_016873278.1:p.Ser2057TyrfsTer7 | |
| XM_017017790.2:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_016873279.1:p.Ser2057TyrfsTer7 | |
| XM_017017791.1:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | XP_016873280.1:p.Ser2057TyrfsTer7 | |
| NM_001330368.2:c.641-7005_641-7004insTTGTTTCCATGTTTTCAGGATCTTCTCTTAGAAATCTACAGAAGTATAGGGGATTG (C11orf65) | NP_001317297.1:n.641-7005_641-7004insTTGTTTCCATGTTTTCAGGATCTT... | |
| NM_001351110.2:c.*39-7005_*39-7004insTTGTTTCCATGTTTTCAGGATCTTCTCTTAGAAATCTACAGAAGTATAGGGGATTG (C11orf65) | NP_001338039.1:n.*39-7005_*39-7004insTTGTTTCCATGTTTTCAGGATCTT... | |
| NM_001351834.2:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) | NP_001338763.1:p.Ser2057TyrfsTer7 | |
| NM_000051.4:c.6169_6170insATACTTCTGTAGATTTCTAAGAGAAGATCCTGAAAACATGGAAACAACAATCCCCT (ATM) MANE Select | NP_000042.3:p.Ser2057TyrfsTer7 |