SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332850_108332855delinsCTTATA , CM000673.2:g.108332850_108332855delinsCTTATA | GRCh38 |
| NC_000011.9:g.108203577_108203582delinsCTTATA , CM000673.1:g.108203577_108203582delinsCTTATA | GRCh37 |
| NC_000011.8:g.107708787_107708792delinsCTTATA | NCBI36 |
| NG_009830.1:g.115019_115024delinsCTTATA , LRG_135:g.115019_115024delinsCTTATA | |
| NG_054724.1:g.141978_141983delinsTATAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7877_7882delinsCTTATA (ATM) | ENSP00000388058.2:p.Ala2626= | |
| ENST00000713593.1:c.*7348_*7353delinsCTTATA (ATM) | ENSP00000518889.1:n.*7348_*7353delinsCTTATA | |
| ENST00000278616.9:c.7877_7882delinsCTTATA (ATM) | ENSP00000278616.4:p.Ala2626= | |
| ENST00000525056.2:n.2296_2301delinsCTTATA (ATM) | ||
| ENST00000525537.3:n.1558_1563delinsCTTATA (ATM) | ||
| ENST00000638786.2:n.625+813_625+818delinsCTTATA (ATM) | ||
| ENST00000682286.1:n.2634_2639delinsCTTATA (ATM) | ||
| ENST00000682302.1:n.2295_2300delinsCTTATA (ATM) | ||
| ENST00000683174.1:n.9361_9366delinsCTTATA (ATM) | ||
| ENST00000683524.1:n.3101_3106delinsCTTATA (ATM) | ||
| ENST00000684152.1:n.3344-1036_3344-1031delinsCTTATA (ATM) | ||
| ENST00000684180.1:n.351_356delinsCTTATA (ATM) | ||
| ENST00000684447.1:n.3385_3390delinsCTTATA (ATM) | ||
| ENST00000527805.6:c.*2941_*2946delinsCTTATA (ATM) | ENSP00000435747.2:n.*2941_*2946delinsCTTATA | |
| ENST00000675595.1:c.*3012_*3017delinsCTTATA (ATM) | ENSP00000502563.1:n.*3012_*3017delinsCTTATA | |
| ENST00000675843.1:c.7877_7882delinsCTTATA (ATM) MANE Select | ENSP00000501606.1:p.Ala2626= | |
| ENST00000278616.8:c.7877_7882delinsCTTATA (ATM) | ENSP00000278616.4:p.Ala2626= | |
| ENST00000452508.6:c.7877_7882delinsCTTATA (ATM) | ENSP00000388058.2:p.Ala2626= | |
| ENST00000524755.5:c.300-1288_300-1283delinsTATAAG (C11orf65) | ||
| ENST00000524792.5:n.4092_4097delinsCTTATA (ATM) | ||
| ENST00000525056.1:n.74_79delinsCTTATA (ATM) | ||
| ENST00000525729.5:c.641-23784_641-23779delinsTATAAG (C11orf65) | ENSP00000433395.1:n.641-23784_641-23779delinsTATAAG | |
| ENST00000527531.5:c.*1270-1288_*1270-1283delinsTATAAG (C11orf65) | ENSP00000431706.1:n.*1270-1288_*1270-1283delinsTATAAG | |
| ENST00000533690.5:n.3281_3286delinsCTTATA (ATM) | ||
| ENST00000533979.5:n.89_94delinsCTTATA (ATM) | ||
| ENST00000615746.4:c.*1270-1288_*1270-1283delinsTATAAG (C11orf65) | ENSP00000483537.1:n.*1270-1288_*1270-1283delinsTATAAG | |
| NM_000051.3:c.7877_7882delinsCTTATA , LRG_135t1:c.7877_7882delinsCTTATA (ATM) | NP_000042.3:p.Ala2626= | |
| XM_005271414.3:c.*39-1288_*39-1283delinsTATAAG (C11orf65) | XP_005271471.1:n.*39-1288_*39-1283delinsTATAAG | |
| XM_005271415.3:c.805-1288_805-1283delinsTATAAG (C11orf65) | XP_005271472.1:n.805-1288_805-1283delinsTATAAG | |
| XM_005271561.3:c.7877_7882delinsCTTATA (ATM) | XP_005271618.2:p.Ala2626= | |
| XM_005271562.3:c.7877_7882delinsCTTATA (ATM) | XP_005271619.2:p.Ala2626= | |
| XM_006718843.2:c.7877_7882delinsCTTATA (ATM) | XP_006718906.1:p.Ala2626= | |
| XM_006718845.1:c.3833_3838delinsCTTATA (ATM) | XP_006718908.1:p.Ala1278= | |
| XM_011542840.1:c.7877_7882delinsCTTATA (ATM) | XP_011541142.1:p.Ala2626= | |
| XM_011542841.1:c.7877_7882delinsCTTATA (ATM) | XP_011541143.1:p.Ala2626= | |
| XM_011542842.1:c.7712_7717delinsCTTATA (ATM) | XP_011541144.1:p.Ala2571= | |
| XM_011542843.1:c.7877_7882delinsCTTATA (ATM) | XP_011541145.1:p.Ala2626= | |
| XM_011542844.1:c.6833_6838delinsCTTATA (ATM) | XP_011541146.1:p.Ala2278= | |
| XM_011542845.1:c.6569_6574delinsCTTATA (ATM) | XP_011541147.1:p.Ala2190= | |
| XM_011542847.1:c.2948_2953delinsCTTATA (ATM) | XP_011541149.1:p.Ala983= | |
| NM_001330368.1:c.641-23784_641-23779delinsTATAAG (C11orf65) | NP_001317297.1:n.641-23784_641-23779delinsTATAAG | |
| NM_001351110.1:c.*38+2365_*38+2370delinsTATAAG (C11orf65) | NP_001338039.1:n.*38+2365_*38+2370delinsTATAAG | |
| NM_001351834.1:c.7877_7882delinsCTTATA (ATM) | NP_001338763.1:p.Ala2626= | |
| NR_147053.2:n.2375-1288_2375-1283delinsTATAAG (C11orf65) | ||
| XM_005271414.4:c.*39-1288_*39-1283delinsTATAAG (C11orf65) | XP_005271471.1:n.*39-1288_*39-1283delinsTATAAG | |
| XM_005271415.4:c.805-1288_805-1283delinsTATAAG (C11orf65) | XP_005271472.1:n.805-1288_805-1283delinsTATAAG | |
| XM_005271562.5:c.7877_7882delinsCTTATA (ATM) | XP_005271619.2:p.Ala2626= | |
| XM_006718843.4:c.7877_7882delinsCTTATA (ATM) | XP_006718906.1:p.Ala2626= | |
| XM_006718845.2:c.3833_3838delinsCTTATA (ATM) | XP_006718908.1:p.Ala1278= | |
| XM_011542840.3:c.7877_7882delinsCTTATA (ATM) | XP_011541142.1:p.Ala2626= | |
| XM_011542842.3:c.7712_7717delinsCTTATA (ATM) | XP_011541144.1:p.Ala2571= | |
| XM_011542843.2:c.7877_7882delinsCTTATA (ATM) | XP_011541145.1:p.Ala2626= | |
| XM_011542844.3:c.6833_6838delinsCTTATA (ATM) | XP_011541146.1:p.Ala2278= | |
| XM_011542845.2:c.6569_6574delinsCTTATA (ATM) | XP_011541147.1:p.Ala2190= | |
| XM_017017789.2:c.7877_7882delinsCTTATA (ATM) | XP_016873278.1:p.Ala2626= | |
| XM_017017790.2:c.7877_7882delinsCTTATA (ATM) | XP_016873279.1:p.Ala2626= | |
| NM_001330368.2:c.641-23784_641-23779delinsTATAAG (C11orf65) | NP_001317297.1:n.641-23784_641-23779delinsTATAAG | |
| NM_001351110.2:c.*38+2365_*38+2370delinsTATAAG (C11orf65) | NP_001338039.1:n.*38+2365_*38+2370delinsTATAAG | |
| NM_001351834.2:c.7877_7882delinsCTTATA (ATM) | NP_001338763.1:p.Ala2626= | |
| NM_000051.4:c.7877_7882delinsCTTATA (ATM) MANE Select | NP_000042.3:p.Ala2626= | |
| NR_147053.3:n.2373-1288_2373-1283delinsTATAAG (C11orf65) |