Linked Data
ClinVar Variation Id:
407654
dbSNP Id:
rs1060501657
gnomAD v2:
11-108180992-CTA-C
gnomAD v4:
11-108310265-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108310267_108310268del , CM000673.2:g.108310267_108310268del | GRCh38 |
| NC_000011.9:g.108180994_108180995del , CM000673.1:g.108180994_108180995del | GRCh37 |
| NC_000011.8:g.107686204_107686205del | NCBI36 |
| NG_009830.1:g.92436_92437del , LRG_135:g.92436_92437del | |
| NG_054724.1:g.164566_164567del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5870_5871del (ATM) | ENSP00000388058.2:p.Tyr1957CysfsTer7 | |
| ENST00000713593.1:c.*5341_*5342del (ATM) | ENSP00000518889.1:n.*5341_*5342del | |
| ENST00000278616.9:c.5870_5871del (ATM) | ENSP00000278616.4:p.Tyr1957CysfsTer7 | |
| ENST00000525056.2:n.289_290del (ATM) | ||
| ENST00000682286.1:n.627_628del (ATM) | ||
| ENST00000682302.1:n.288_289del (ATM) | ||
| ENST00000683174.1:n.7354_7355del (ATM) | ||
| ENST00000683524.1:n.1094_1095del (ATM) | ||
| ENST00000684152.1:n.1584_1585del (ATM) | ||
| ENST00000527805.6:c.*934_*935del (ATM) | ENSP00000435747.2:n.*934_*935del | |
| ENST00000675595.1:c.*934_*935del (ATM) | ENSP00000502563.1:n.*934_*935del | |
| ENST00000675843.1:c.5870_5871del (ATM) MANE Select | ENSP00000501606.1:p.Tyr1957CysfsTer7 | |
| ENST00000278616.8:c.5870_5871del (ATM) | ENSP00000278616.4:p.Tyr1957CysfsTer7 | |
| ENST00000452508.6:c.5870_5871del (ATM) | ENSP00000388058.2:p.Tyr1957CysfsTer7 | |
| ENST00000524792.5:n.2085_2086del (ATM) | ||
| ENST00000525729.5:c.641-1196_641-1195del (C11orf65) | ENSP00000433395.1:n.641-1196_641-1195del | |
| ENST00000529588.5:c.294_295del (ATM) | ||
| ENST00000532765.1:n.187_188del (ATM) | ||
| ENST00000533690.5:n.1274_1275del (ATM) | ||
| NM_000051.3:c.5870_5871del , LRG_135t1:c.5870_5871del (ATM) | NP_000042.3:p.Tyr1957CysfsTer7 | |
| XM_005271561.3:c.5870_5871del (ATM) | XP_005271618.2:p.Tyr1957CysfsTer7 | |
| XM_005271562.3:c.5870_5871del (ATM) | XP_005271619.2:p.Tyr1957CysfsTer7 | |
| XM_006718843.2:c.5870_5871del (ATM) | XP_006718906.1:p.Tyr1957CysfsTer7 | |
| XM_006718845.1:c.1826_1827del (ATM) | XP_006718908.1:p.Tyr609CysfsTer7 | |
| XM_011542840.1:c.5870_5871del (ATM) | XP_011541142.1:p.Tyr1957CysfsTer7 | |
| XM_011542841.1:c.5870_5871del (ATM) | XP_011541143.1:p.Tyr1957CysfsTer7 | |
| XM_011542842.1:c.5705_5706del (ATM) | XP_011541144.1:p.Tyr1902CysfsTer7 | |
| XM_011542843.1:c.5870_5871del (ATM) | XP_011541145.1:p.Tyr1957CysfsTer7 | |
| XM_011542844.1:c.4826_4827del (ATM) | XP_011541146.1:p.Tyr1609CysfsTer7 | |
| XM_011542845.1:c.4562_4563del (ATM) | XP_011541147.1:p.Tyr1521CysfsTer7 | |
| XM_011542847.1:c.941_942del (ATM) | XP_011541149.1:p.Tyr314CysfsTer7 | |
| NM_001330368.1:c.641-1196_641-1195del (C11orf65) | NP_001317297.1:n.641-1196_641-1195del | |
| NM_001351110.1:c.*39-1196_*39-1195del (C11orf65) | NP_001338039.1:n.*39-1196_*39-1195del | |
| NM_001351834.1:c.5870_5871del (ATM) | NP_001338763.1:p.Tyr1957CysfsTer7 | |
| XM_005271562.5:c.5870_5871del (ATM) | XP_005271619.2:p.Tyr1957CysfsTer7 | |
| XM_006718843.4:c.5870_5871del (ATM) | XP_006718906.1:p.Tyr1957CysfsTer7 | |
| XM_006718845.2:c.1826_1827del (ATM) | XP_006718908.1:p.Tyr609CysfsTer7 | |
| XM_011542840.3:c.5870_5871del (ATM) | XP_011541142.1:p.Tyr1957CysfsTer7 | |
| XM_011542842.3:c.5705_5706del (ATM) | XP_011541144.1:p.Tyr1902CysfsTer7 | |
| XM_011542843.2:c.5870_5871del (ATM) | XP_011541145.1:p.Tyr1957CysfsTer7 | |
| XM_011542844.3:c.4826_4827del (ATM) | XP_011541146.1:p.Tyr1609CysfsTer7 | |
| XM_011542845.2:c.4562_4563del (ATM) | XP_011541147.1:p.Tyr1521CysfsTer7 | |
| XM_017017789.2:c.5870_5871del (ATM) | XP_016873278.1:p.Tyr1957CysfsTer7 | |
| XM_017017790.2:c.5870_5871del (ATM) | XP_016873279.1:p.Tyr1957CysfsTer7 | |
| XM_017017791.1:c.5870_5871del (ATM) | XP_016873280.1:p.Tyr1957CysfsTer7 | |
| XR_002957150.1:n.6470_6471del (ATM) | ||
| NM_001330368.2:c.641-1196_641-1195del (C11orf65) | NP_001317297.1:n.641-1196_641-1195del | |
| NM_001351110.2:c.*39-1196_*39-1195del (C11orf65) | NP_001338039.1:n.*39-1196_*39-1195del | |
| NM_001351834.2:c.5870_5871del (ATM) | NP_001338763.1:p.Tyr1957CysfsTer7 | |
| NM_000051.4:c.5870_5871del (ATM) MANE Select | NP_000042.3:p.Tyr1957CysfsTer7 |