Linked Data
ClinVar Variation Id:
3019
dbSNP Id:
rs587776547
gnomAD v2:
11-108202611-CTCTAGAATT-C
gnomAD v3:
11-108331884-CTCTAGAATT-C
gnomAD v4:
11-108331884-CTCTAGAATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108331887_108331895del , CM000673.2:g.108331887_108331895del | GRCh38 |
| NC_000011.9:g.108202614_108202622del , CM000673.1:g.108202614_108202622del | GRCh37 |
| NC_000011.8:g.107707824_107707832del | NCBI36 |
| NG_009830.1:g.114056_114064del , LRG_135:g.114056_114064del | |
| NG_054724.1:g.142940_142948del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7638_7646del (ATM) | ENSP00000388058.2:p.Arg2547_Ser2549del | |
| ENST00000713593.1:c.*7109_*7117del (ATM) | ENSP00000518889.1:n.*7109_*7117del | |
| ENST00000278616.9:c.7638_7646del (ATM) | ENSP00000278616.4:p.Arg2547_Ser2549del | |
| ENST00000525056.2:n.2057_2065del (ATM) | ||
| ENST00000525537.3:n.595_603del (ATM) | ||
| ENST00000638786.2:n.475_483del (ATM) | ||
| ENST00000682286.1:n.2395_2403del (ATM) | ||
| ENST00000682302.1:n.2056_2064del (ATM) | ||
| ENST00000683174.1:n.9122_9130del (ATM) | ||
| ENST00000683524.1:n.2862_2870del (ATM) | ||
| ENST00000684152.1:n.3343+330_3343+338del (ATM) | ||
| ENST00000684447.1:n.2422_2430del (ATM) | ||
| ENST00000527805.6:c.*2702_*2710del (ATM) | ENSP00000435747.2:n.*2702_*2710del | |
| ENST00000675595.1:c.*2773_*2781del (ATM) | ENSP00000502563.1:n.*2773_*2781del | |
| ENST00000675843.1:c.7638_7646del (ATM) MANE Select | ENSP00000501606.1:p.Arg2547_Ser2549del | |
| ENST00000278616.8:c.7638_7646del (ATM) | ENSP00000278616.4:p.Arg2547_Ser2549del | |
| ENST00000452508.6:c.7638_7646del (ATM) | ENSP00000388058.2:p.Arg2547_Ser2549del | |
| ENST00000524755.5:c.300-326_300-318del (C11orf65) | ||
| ENST00000524792.5:n.3853_3861del (ATM) | ||
| ENST00000525729.5:c.641-22822_641-22814del (C11orf65) | ENSP00000433395.1:n.641-22822_641-22814de... | |
| ENST00000527531.5:c.*1270-326_*1270-318del (C11orf65) | ENSP00000431706.1:n.*1270-326_*1270-318de... | |
| ENST00000533690.5:n.3042_3050del (ATM) | ||
| ENST00000615746.4:c.*1270-326_*1270-318del (C11orf65) | ENSP00000483537.1:n.*1270-326_*1270-318de... | |
| NM_000051.3:c.7638_7646del , LRG_135t1:c.7638_7646del (ATM) | NP_000042.3:p.Arg2547_Ser2549del | |
| XM_005271414.3:c.*39-326_*39-318del (C11orf65) | XP_005271471.1:n.*39-326_*39-318del | |
| XM_005271415.3:c.805-326_805-318del (C11orf65) | XP_005271472.1:n.805-326_805-318del | |
| XM_005271561.3:c.7638_7646del (ATM) | XP_005271618.2:p.Arg2547_Ser2549del | |
| XM_005271562.3:c.7638_7646del (ATM) | XP_005271619.2:p.Arg2547_Ser2549del | |
| XM_006718843.2:c.7638_7646del (ATM) | XP_006718906.1:p.Arg2547_Ser2549del | |
| XM_006718845.1:c.3594_3602del (ATM) | XP_006718908.1:p.Arg1199_Ser1201del | |
| XM_011542840.1:c.7638_7646del (ATM) | XP_011541142.1:p.Arg2547_Ser2549del | |
| XM_011542841.1:c.7638_7646del (ATM) | XP_011541143.1:p.Arg2547_Ser2549del | |
| XM_011542842.1:c.7473_7481del (ATM) | XP_011541144.1:p.Arg2492_Ser2494del | |
| XM_011542843.1:c.7638_7646del (ATM) | XP_011541145.1:p.Arg2547_Ser2549del | |
| XM_011542844.1:c.6594_6602del (ATM) | XP_011541146.1:p.Arg2199_Ser2201del | |
| XM_011542845.1:c.6330_6338del (ATM) | XP_011541147.1:p.Arg2111_Ser2113del | |
| XM_011542847.1:c.2709_2717del (ATM) | XP_011541149.1:p.Arg904_Ser906del | |
| NM_001330368.1:c.641-22822_641-22814del (C11orf65) | NP_001317297.1:n.641-22822_641-22814del | |
| NM_001351110.1:c.*38+3327_*38+3335del (C11orf65) | NP_001338039.1:n.*38+3327_*38+3335del | |
| NM_001351834.1:c.7638_7646del (ATM) | NP_001338763.1:p.Arg2547_Ser2549del | |
| NR_147053.2:n.2375-326_2375-318del (C11orf65) | ||
| XM_005271414.4:c.*39-326_*39-318del (C11orf65) | XP_005271471.1:n.*39-326_*39-318del | |
| XM_005271415.4:c.805-326_805-318del (C11orf65) | XP_005271472.1:n.805-326_805-318del | |
| XM_005271562.5:c.7638_7646del (ATM) | XP_005271619.2:p.Arg2547_Ser2549del | |
| XM_006718843.4:c.7638_7646del (ATM) | XP_006718906.1:p.Arg2547_Ser2549del | |
| XM_006718845.2:c.3594_3602del (ATM) | XP_006718908.1:p.Arg1199_Ser1201del | |
| XM_011542840.3:c.7638_7646del (ATM) | XP_011541142.1:p.Arg2547_Ser2549del | |
| XM_011542842.3:c.7473_7481del (ATM) | XP_011541144.1:p.Arg2492_Ser2494del | |
| XM_011542843.2:c.7638_7646del (ATM) | XP_011541145.1:p.Arg2547_Ser2549del | |
| XM_011542844.3:c.6594_6602del (ATM) | XP_011541146.1:p.Arg2199_Ser2201del | |
| XM_011542845.2:c.6330_6338del (ATM) | XP_011541147.1:p.Arg2111_Ser2113del | |
| XM_017017789.2:c.7638_7646del (ATM) | XP_016873278.1:p.Arg2547_Ser2549del | |
| XM_017017790.2:c.7638_7646del (ATM) | XP_016873279.1:p.Arg2547_Ser2549del | |
| NM_001330368.2:c.641-22822_641-22814del (C11orf65) | NP_001317297.1:n.641-22822_641-22814del | |
| NM_001351110.2:c.*38+3327_*38+3335del (C11orf65) | NP_001338039.1:n.*38+3327_*38+3335del | |
| NM_001351834.2:c.7638_7646del (ATM) | NP_001338763.1:p.Arg2547_Ser2549del | |
| NM_000051.4:c.7638_7646del (ATM) MANE Select | NP_000042.3:p.Arg2547_Ser2549del | |
| NR_147053.3:n.2373-326_2373-318del (C11orf65) |