Linked Data
dbSNP Id:
rs759965045
ExAC:
11:108202677 CAG / C
gnomAD v2:
11-108202677-CAG-C
gnomAD v3:
11-108331950-CAG-C
gnomAD v4:
11-108331950-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108331954_108331955del , CM000673.2:g.108331954_108331955del | GRCh38 |
| NC_000011.9:g.108202681_108202682del , CM000673.1:g.108202681_108202682del | GRCh37 |
| NC_000011.8:g.107707891_107707892del | NCBI36 |
| NG_009830.1:g.114123_114124del , LRG_135:g.114123_114124del | |
| NG_054724.1:g.142881_142882del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7705_7706del (ATM) | ENSP00000388058.2:p.Asp2569Ter | |
| ENST00000713593.1:c.*7176_*7177del (ATM) | ENSP00000518889.1:n.*7176_*7177del | |
| ENST00000278616.9:c.7705_7706del (ATM) | ENSP00000278616.4:p.Asp2569Ter | |
| ENST00000525056.2:n.2124_2125del (ATM) | ||
| ENST00000525537.3:n.662_663del (ATM) | ||
| ENST00000638786.2:n.542_543del (ATM) | ||
| ENST00000682286.1:n.2462_2463del (ATM) | ||
| ENST00000682302.1:n.2123_2124del (ATM) | ||
| ENST00000683174.1:n.9189_9190del (ATM) | ||
| ENST00000683524.1:n.2929_2930del (ATM) | ||
| ENST00000684152.1:n.3343+397_3343+398del (ATM) | ||
| ENST00000684447.1:n.2489_2490del (ATM) | ||
| ENST00000527805.6:c.*2769_*2770del (ATM) | ENSP00000435747.2:n.*2769_*2770del | |
| ENST00000675595.1:c.*2840_*2841del (ATM) | ENSP00000502563.1:n.*2840_*2841del | |
| ENST00000675843.1:c.7705_7706del (ATM) MANE Select | ENSP00000501606.1:p.Asp2569Ter | |
| ENST00000278616.8:c.7705_7706del (ATM) | ENSP00000278616.4:p.Asp2569Ter | |
| ENST00000452508.6:c.7705_7706del (ATM) | ENSP00000388058.2:p.Asp2569Ter | |
| ENST00000524755.5:c.300-385_300-384del (C11orf65) | ||
| ENST00000524792.5:n.3920_3921del (ATM) | ||
| ENST00000525729.5:c.641-22881_641-22880del (C11orf65) | ENSP00000433395.1:n.641-22881_641-22880de... | |
| ENST00000527531.5:c.*1270-385_*1270-384del (C11orf65) | ENSP00000431706.1:n.*1270-385_*1270-384de... | |
| ENST00000533690.5:n.3109_3110del (ATM) | ||
| ENST00000615746.4:c.*1270-385_*1270-384del (C11orf65) | ENSP00000483537.1:n.*1270-385_*1270-384de... | |
| NM_000051.3:c.7705_7706del , LRG_135t1:c.7705_7706del (ATM) | NP_000042.3:p.Asp2569Ter | |
| XM_005271414.3:c.*39-385_*39-384del (C11orf65) | XP_005271471.1:n.*39-385_*39-384del | |
| XM_005271415.3:c.805-385_805-384del (C11orf65) | XP_005271472.1:n.805-385_805-384del | |
| XM_005271561.3:c.7705_7706del (ATM) | XP_005271618.2:p.Asp2569Ter | |
| XM_005271562.3:c.7705_7706del (ATM) | XP_005271619.2:p.Asp2569Ter | |
| XM_006718843.2:c.7705_7706del (ATM) | XP_006718906.1:p.Asp2569Ter | |
| XM_006718845.1:c.3661_3662del (ATM) | XP_006718908.1:p.Asp1221Ter | |
| XM_011542840.1:c.7705_7706del (ATM) | XP_011541142.1:p.Asp2569Ter | |
| XM_011542841.1:c.7705_7706del (ATM) | XP_011541143.1:p.Asp2569Ter | |
| XM_011542842.1:c.7540_7541del (ATM) | XP_011541144.1:p.Asp2514Ter | |
| XM_011542843.1:c.7705_7706del (ATM) | XP_011541145.1:p.Asp2569Ter | |
| XM_011542844.1:c.6661_6662del (ATM) | XP_011541146.1:p.Asp2221Ter | |
| XM_011542845.1:c.6397_6398del (ATM) | XP_011541147.1:p.Asp2133Ter | |
| XM_011542847.1:c.2776_2777del (ATM) | XP_011541149.1:p.Asp926Ter | |
| NM_001330368.1:c.641-22881_641-22880del (C11orf65) | NP_001317297.1:n.641-22881_641-22880del | |
| NM_001351110.1:c.*38+3268_*38+3269del (C11orf65) | NP_001338039.1:n.*38+3268_*38+3269del | |
| NM_001351834.1:c.7705_7706del (ATM) | NP_001338763.1:p.Asp2569Ter | |
| NR_147053.2:n.2375-385_2375-384del (C11orf65) | ||
| XM_005271414.4:c.*39-385_*39-384del (C11orf65) | XP_005271471.1:n.*39-385_*39-384del | |
| XM_005271415.4:c.805-385_805-384del (C11orf65) | XP_005271472.1:n.805-385_805-384del | |
| XM_005271562.5:c.7705_7706del (ATM) | XP_005271619.2:p.Asp2569Ter | |
| XM_006718843.4:c.7705_7706del (ATM) | XP_006718906.1:p.Asp2569Ter | |
| XM_006718845.2:c.3661_3662del (ATM) | XP_006718908.1:p.Asp1221Ter | |
| XM_011542840.3:c.7705_7706del (ATM) | XP_011541142.1:p.Asp2569Ter | |
| XM_011542842.3:c.7540_7541del (ATM) | XP_011541144.1:p.Asp2514Ter | |
| XM_011542843.2:c.7705_7706del (ATM) | XP_011541145.1:p.Asp2569Ter | |
| XM_011542844.3:c.6661_6662del (ATM) | XP_011541146.1:p.Asp2221Ter | |
| XM_011542845.2:c.6397_6398del (ATM) | XP_011541147.1:p.Asp2133Ter | |
| XM_017017789.2:c.7705_7706del (ATM) | XP_016873278.1:p.Asp2569Ter | |
| XM_017017790.2:c.7705_7706del (ATM) | XP_016873279.1:p.Asp2569Ter | |
| NM_001330368.2:c.641-22881_641-22880del (C11orf65) | NP_001317297.1:n.641-22881_641-22880del | |
| NM_001351110.2:c.*38+3268_*38+3269del (C11orf65) | NP_001338039.1:n.*38+3268_*38+3269del | |
| NM_001351834.2:c.7705_7706del (ATM) | NP_001338763.1:p.Asp2569Ter | |
| NM_000051.4:c.7705_7706del (ATM) MANE Select | NP_000042.3:p.Asp2569Ter | |
| NR_147053.3:n.2373-385_2373-384del (C11orf65) |