Linked Data
dbSNP Id:
rs754906809
ExAC:
11:108204729 CTA / C
gnomAD v2:
11-108204729-CTA-C
gnomAD v4:
11-108334002-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108334003_108334004del , CM000673.2:g.108334003_108334004del | GRCh38 |
| NC_000011.9:g.108204730_108204731del , CM000673.1:g.108204730_108204731del | GRCh37 |
| NC_000011.8:g.107709940_107709941del | NCBI36 |
| NG_009830.1:g.116172_116173del , LRG_135:g.116172_116173del | |
| NG_054724.1:g.140829_140830del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8010+35_8010+36del (ATM) | ENSP00000388058.2:n.8010+35_8010+36del | |
| ENST00000713593.1:c.*7481+35_*7481+36del (ATM) | ENSP00000518889.1:n.*7481+35_*7481+36del | |
| ENST00000278616.9:c.8010+35_8010+36del (ATM) | ENSP00000278616.4:n.8010+35_8010+36del | |
| ENST00000525056.2:n.2429+35_2429+36del (ATM) | ||
| ENST00000638786.2:n.708+35_708+36del (ATM) | ||
| ENST00000682286.1:n.2767+35_2767+36del (ATM) | ||
| ENST00000682302.1:n.2428+35_2428+36del (ATM) | ||
| ENST00000683174.1:n.9494+35_9494+36del (ATM) | ||
| ENST00000683524.1:n.3234+35_3234+36del (ATM) | ||
| ENST00000684152.1:n.3426+35_3426+36del (ATM) | ||
| ENST00000684180.1:n.484+35_484+36del (ATM) | ||
| ENST00000684447.1:n.4503+35_4503+36del (ATM) | ||
| ENST00000527805.6:c.*3074+35_*3074+36del (ATM) | ENSP00000435747.2:n.*3074+35_*3074+36del | |
| ENST00000675595.1:c.*3145+35_*3145+36del (ATM) | ENSP00000502563.1:n.*3145+35_*3145+36del | |
| ENST00000675843.1:c.8010+35_8010+36del (ATM) MANE Select | ENSP00000501606.1:n.8010+35_8010+36del | |
| ENST00000278616.8:c.8010+35_8010+36del (ATM) | ENSP00000278616.4:n.8010+35_8010+36del | |
| ENST00000452508.6:c.8010+35_8010+36del (ATM) | ENSP00000388058.2:n.8010+35_8010+36del | |
| ENST00000524755.5:c.299+1216_299+1217del (C11orf65) | ||
| ENST00000524792.5:n.4225+35_4225+36del (ATM) | ||
| ENST00000525056.1:n.207+35_207+36del (ATM) | ||
| ENST00000525729.5:c.641-24933_641-24932del (C11orf65) | ENSP00000433395.1:n.641-24933_641-24932del | |
| ENST00000527531.5:c.*1269+1216_*1269+1217del (C11orf65) | ENSP00000431706.1:n.*1269+1216_*1269+1217del | |
| ENST00000533979.5:n.222+35_222+36del (ATM) | ||
| ENST00000615746.4:c.*1269+1216_*1269+1217del (C11orf65) | ENSP00000483537.1:n.*1269+1216_*1269+1217del | |
| NM_000051.3:c.8010+35_8010+36del , LRG_135t1:c.8010+35_8010+36del (ATM) | NP_000042.3:n.8010+35_8010+36del | |
| XM_005271414.3:c.*38+1216_*38+1217del (C11orf65) | XP_005271471.1:n.*38+1216_*38+1217del | |
| XM_005271415.3:c.804+1216_804+1217del (C11orf65) | XP_005271472.1:n.804+1216_804+1217del | |
| XM_005271561.3:c.8010+35_8010+36del (ATM) | XP_005271618.2:n.8010+35_8010+36del | |
| XM_005271562.3:c.8010+35_8010+36del (ATM) | XP_005271619.2:n.8010+35_8010+36del | |
| XM_006718843.2:c.8010+35_8010+36del (ATM) | XP_006718906.1:n.8010+35_8010+36del | |
| XM_006718845.1:c.3966+35_3966+36del (ATM) | XP_006718908.1:n.3966+35_3966+36del | |
| XM_011542840.1:c.8010+35_8010+36del (ATM) | XP_011541142.1:n.8010+35_8010+36del | |
| XM_011542841.1:c.8010+35_8010+36del (ATM) | XP_011541143.1:n.8010+35_8010+36del | |
| XM_011542842.1:c.7845+35_7845+36del (ATM) | XP_011541144.1:n.7845+35_7845+36del | |
| XM_011542843.1:c.8010+35_8010+36del (ATM) | XP_011541145.1:n.8010+35_8010+36del | |
| XM_011542844.1:c.6966+35_6966+36del (ATM) | XP_011541146.1:n.6966+35_6966+36del | |
| XM_011542845.1:c.6702+35_6702+36del (ATM) | XP_011541147.1:n.6702+35_6702+36del | |
| XM_011542847.1:c.3081+35_3081+36del (ATM) | XP_011541149.1:n.3081+35_3081+36del | |
| NM_001330368.1:c.641-24933_641-24932del (C11orf65) | NP_001317297.1:n.641-24933_641-24932del | |
| NM_001351110.1:c.*38+1216_*38+1217del (C11orf65) | NP_001338039.1:n.*38+1216_*38+1217del | |
| NM_001351834.1:c.8010+35_8010+36del (ATM) | NP_001338763.1:n.8010+35_8010+36del | |
| NR_147053.2:n.2374+1216_2374+1217del (C11orf65) | ||
| XM_005271414.4:c.*38+1216_*38+1217del (C11orf65) | XP_005271471.1:n.*38+1216_*38+1217del | |
| XM_005271415.4:c.804+1216_804+1217del (C11orf65) | XP_005271472.1:n.804+1216_804+1217del | |
| XM_005271562.5:c.8010+35_8010+36del (ATM) | XP_005271619.2:n.8010+35_8010+36del | |
| XM_006718843.4:c.8010+35_8010+36del (ATM) | XP_006718906.1:n.8010+35_8010+36del | |
| XM_006718845.2:c.3966+35_3966+36del (ATM) | XP_006718908.1:n.3966+35_3966+36del | |
| XM_011542840.3:c.8010+35_8010+36del (ATM) | XP_011541142.1:n.8010+35_8010+36del | |
| XM_011542842.3:c.7845+35_7845+36del (ATM) | XP_011541144.1:n.7845+35_7845+36del | |
| XM_011542843.2:c.8010+35_8010+36del (ATM) | XP_011541145.1:n.8010+35_8010+36del | |
| XM_011542844.3:c.6966+35_6966+36del (ATM) | XP_011541146.1:n.6966+35_6966+36del | |
| XM_011542845.2:c.6702+35_6702+36del (ATM) | XP_011541147.1:n.6702+35_6702+36del | |
| XM_017017789.2:c.8010+35_8010+36del (ATM) | XP_016873278.1:n.8010+35_8010+36del | |
| XM_017017790.2:c.8010+35_8010+36del (ATM) | XP_016873279.1:n.8010+35_8010+36del | |
| NM_001330368.2:c.641-24933_641-24932del (C11orf65) | NP_001317297.1:n.641-24933_641-24932del | |
| NM_001351110.2:c.*38+1216_*38+1217del (C11orf65) | NP_001338039.1:n.*38+1216_*38+1217del | |
| NM_001351834.2:c.8010+35_8010+36del (ATM) | NP_001338763.1:n.8010+35_8010+36del | |
| NM_000051.4:c.8010+35_8010+36del (ATM) MANE Select | NP_000042.3:n.8010+35_8010+36del | |
| NR_147053.3:n.2372+1216_2372+1217del (C11orf65) |