Linked Data
ClinVar Variation Id:
370576
dbSNP Id:
rs1057516599
gnomAD v2:
11-108203579-TA-T
gnomAD v4:
11-108332852-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332853del , CM000673.2:g.108332853del | GRCh38 |
| NC_000011.9:g.108203580del , CM000673.1:g.108203580del | GRCh37 |
| NC_000011.8:g.107708790del | NCBI36 |
| NG_009830.1:g.115022del , LRG_135:g.115022del | |
| NG_054724.1:g.141980del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7880del (ATM) | ENSP00000388058.2:p.Tyr2627LeufsTer4 | |
| ENST00000713593.1:c.*7351del (ATM) | ENSP00000518889.1:n.*7351del | |
| ENST00000278616.9:c.7880del (ATM) | ENSP00000278616.4:p.Tyr2627LeufsTer4 | |
| ENST00000525056.2:n.2299del (ATM) | ||
| ENST00000525537.3:n.1561del (ATM) | ||
| ENST00000638786.2:n.625+816del (ATM) | ||
| ENST00000682286.1:n.2637del (ATM) | ||
| ENST00000682302.1:n.2298del (ATM) | ||
| ENST00000683174.1:n.9364del (ATM) | ||
| ENST00000683524.1:n.3104del (ATM) | ||
| ENST00000684152.1:n.3344-1033del (ATM) | ||
| ENST00000684180.1:n.354del (ATM) | ||
| ENST00000684447.1:n.3388del (ATM) | ||
| ENST00000527805.6:c.*2944del (ATM) | ENSP00000435747.2:n.*2944del | |
| ENST00000675595.1:c.*3015del (ATM) | ENSP00000502563.1:n.*3015del | |
| ENST00000675843.1:c.7880del (ATM) MANE Select | ENSP00000501606.1:p.Tyr2627LeufsTer4 | |
| ENST00000278616.8:c.7880del (ATM) | ENSP00000278616.4:p.Tyr2627LeufsTer4 | |
| ENST00000452508.6:c.7880del (ATM) | ENSP00000388058.2:p.Tyr2627LeufsTer4 | |
| ENST00000524755.5:c.300-1286del (C11orf65) | ||
| ENST00000524792.5:n.4095del (ATM) | ||
| ENST00000525056.1:n.77del (ATM) | ||
| ENST00000525729.5:c.641-23782del (C11orf65) | ENSP00000433395.1:n.641-23782del | |
| ENST00000527531.5:c.*1270-1286del (C11orf65) | ENSP00000431706.1:n.*1270-1286del | |
| ENST00000533690.5:n.3284del (ATM) | ||
| ENST00000533979.5:n.92del (ATM) | ||
| ENST00000615746.4:c.*1270-1286del (C11orf65) | ENSP00000483537.1:n.*1270-1286del | |
| NM_000051.3:c.7880del , LRG_135t1:c.7880del (ATM) | NP_000042.3:p.Tyr2627LeufsTer4 | |
| XM_005271414.3:c.*39-1286del (C11orf65) | XP_005271471.1:n.*39-1286del | |
| XM_005271415.3:c.805-1286del (C11orf65) | XP_005271472.1:n.805-1286del | |
| XM_005271561.3:c.7880del (ATM) | XP_005271618.2:p.Tyr2627LeufsTer4 | |
| XM_005271562.3:c.7880del (ATM) | XP_005271619.2:p.Tyr2627LeufsTer4 | |
| XM_006718843.2:c.7880del (ATM) | XP_006718906.1:p.Tyr2627LeufsTer4 | |
| XM_006718845.1:c.3836del (ATM) | XP_006718908.1:p.Tyr1279LeufsTer4 | |
| XM_011542840.1:c.7880del (ATM) | XP_011541142.1:p.Tyr2627LeufsTer4 | |
| XM_011542841.1:c.7880del (ATM) | XP_011541143.1:p.Tyr2627LeufsTer4 | |
| XM_011542842.1:c.7715del (ATM) | XP_011541144.1:p.Tyr2572LeufsTer4 | |
| XM_011542843.1:c.7880del (ATM) | XP_011541145.1:p.Tyr2627LeufsTer4 | |
| XM_011542844.1:c.6836del (ATM) | XP_011541146.1:p.Tyr2279LeufsTer4 | |
| XM_011542845.1:c.6572del (ATM) | XP_011541147.1:p.Tyr2191LeufsTer4 | |
| XM_011542847.1:c.2951del (ATM) | XP_011541149.1:p.Tyr984LeufsTer4 | |
| NM_001330368.1:c.641-23782del (C11orf65) | NP_001317297.1:n.641-23782del | |
| NM_001351110.1:c.*38+2367del (C11orf65) | NP_001338039.1:n.*38+2367del | |
| NM_001351834.1:c.7880del (ATM) | NP_001338763.1:p.Tyr2627LeufsTer4 | |
| NR_147053.2:n.2375-1286del (C11orf65) | ||
| XM_005271414.4:c.*39-1286del (C11orf65) | XP_005271471.1:n.*39-1286del | |
| XM_005271415.4:c.805-1286del (C11orf65) | XP_005271472.1:n.805-1286del | |
| XM_005271562.5:c.7880del (ATM) | XP_005271619.2:p.Tyr2627LeufsTer4 | |
| XM_006718843.4:c.7880del (ATM) | XP_006718906.1:p.Tyr2627LeufsTer4 | |
| XM_006718845.2:c.3836del (ATM) | XP_006718908.1:p.Tyr1279LeufsTer4 | |
| XM_011542840.3:c.7880del (ATM) | XP_011541142.1:p.Tyr2627LeufsTer4 | |
| XM_011542842.3:c.7715del (ATM) | XP_011541144.1:p.Tyr2572LeufsTer4 | |
| XM_011542843.2:c.7880del (ATM) | XP_011541145.1:p.Tyr2627LeufsTer4 | |
| XM_011542844.3:c.6836del (ATM) | XP_011541146.1:p.Tyr2279LeufsTer4 | |
| XM_011542845.2:c.6572del (ATM) | XP_011541147.1:p.Tyr2191LeufsTer4 | |
| XM_017017789.2:c.7880del (ATM) | XP_016873278.1:p.Tyr2627LeufsTer4 | |
| XM_017017790.2:c.7880del (ATM) | XP_016873279.1:p.Tyr2627LeufsTer4 | |
| NM_001330368.2:c.641-23782del (C11orf65) | NP_001317297.1:n.641-23782del | |
| NM_001351110.2:c.*38+2367del (C11orf65) | NP_001338039.1:n.*38+2367del | |
| NM_001351834.2:c.7880del (ATM) | NP_001338763.1:p.Tyr2627LeufsTer4 | |
| NM_000051.4:c.7880del (ATM) MANE Select | NP_000042.3:p.Tyr2627LeufsTer4 | |
| NR_147053.3:n.2373-1286del (C11orf65) |