Linked Data
ClinVar Variation Id:
230200
dbSNP Id:
rs1450394308
gnomAD v2:
11-108203577-CTTATA-C
gnomAD v4:
11-108332850-CTTATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332859_108332863del , CM000673.2:g.108332859_108332863del | GRCh38 |
| NC_000011.9:g.108203586_108203590del , CM000673.1:g.108203586_108203590del | GRCh37 |
| NC_000011.8:g.107708796_107708800del | NCBI36 |
| NG_009830.1:g.115028_115032del , LRG_135:g.115028_115032del | |
| NG_054724.1:g.141978_141982del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7886_7890del (ATM) | ENSP00000388058.2:p.Ile2629SerfsTer25 | |
| ENST00000713593.1:c.*7357_*7361del (ATM) | ENSP00000518889.1:n.*7357_*7361del | |
| ENST00000278616.9:c.7886_7890del (ATM) | ENSP00000278616.4:p.Ile2629SerfsTer25 | |
| ENST00000525056.2:n.2305_2309del (ATM) | ||
| ENST00000525537.3:n.1567_1571del (ATM) | ||
| ENST00000638786.2:n.625+822_625+826del (ATM) | ||
| ENST00000682286.1:n.2643_2647del (ATM) | ||
| ENST00000682302.1:n.2304_2308del (ATM) | ||
| ENST00000683174.1:n.9370_9374del (ATM) | ||
| ENST00000683524.1:n.3110_3114del (ATM) | ||
| ENST00000684152.1:n.3344-1027_3344-1023del (ATM) | ||
| ENST00000684180.1:n.360_364del (ATM) | ||
| ENST00000684447.1:n.3394_3398del (ATM) | ||
| ENST00000527805.6:c.*2950_*2954del (ATM) | ENSP00000435747.2:n.*2950_*2954del | |
| ENST00000675595.1:c.*3021_*3025del (ATM) | ENSP00000502563.1:n.*3021_*3025del | |
| ENST00000675843.1:c.7886_7890del (ATM) MANE Select | ENSP00000501606.1:p.Ile2629SerfsTer25 | |
| ENST00000278616.8:c.7886_7890del (ATM) | ENSP00000278616.4:p.Ile2629SerfsTer25 | |
| ENST00000452508.6:c.7886_7890del (ATM) | ENSP00000388058.2:p.Ile2629SerfsTer25 | |
| ENST00000524755.5:c.300-1288_300-1284del (C11orf65) | ||
| ENST00000524792.5:n.4101_4105del (ATM) | ||
| ENST00000525056.1:n.83_87del (ATM) | ||
| ENST00000525729.5:c.641-23784_641-23780del (C11orf65) | ENSP00000433395.1:n.641-23784_641-23780del | |
| ENST00000527531.5:c.*1270-1288_*1270-1284del (C11orf65) | ENSP00000431706.1:n.*1270-1288_*1270-1284del | |
| ENST00000533690.5:n.3290_3294del (ATM) | ||
| ENST00000533979.5:n.98_102del (ATM) | ||
| ENST00000615746.4:c.*1270-1288_*1270-1284del (C11orf65) | ENSP00000483537.1:n.*1270-1288_*1270-1284del | |
| NM_000051.3:c.7886_7890del , LRG_135t1:c.7886_7890del (ATM) | NP_000042.3:p.Ile2629SerfsTer25 | |
| XM_005271414.3:c.*39-1288_*39-1284del (C11orf65) | XP_005271471.1:n.*39-1288_*39-1284del | |
| XM_005271415.3:c.805-1288_805-1284del (C11orf65) | XP_005271472.1:n.805-1288_805-1284del | |
| XM_005271561.3:c.7886_7890del (ATM) | XP_005271618.2:p.Ile2629SerfsTer25 | |
| XM_005271562.3:c.7886_7890del (ATM) | XP_005271619.2:p.Ile2629SerfsTer25 | |
| XM_006718843.2:c.7886_7890del (ATM) | XP_006718906.1:p.Ile2629SerfsTer25 | |
| XM_006718845.1:c.3842_3846del (ATM) | XP_006718908.1:p.Ile1281SerfsTer25 | |
| XM_011542840.1:c.7886_7890del (ATM) | XP_011541142.1:p.Ile2629SerfsTer25 | |
| XM_011542841.1:c.7886_7890del (ATM) | XP_011541143.1:p.Ile2629SerfsTer25 | |
| XM_011542842.1:c.7721_7725del (ATM) | XP_011541144.1:p.Ile2574SerfsTer25 | |
| XM_011542843.1:c.7886_7890del (ATM) | XP_011541145.1:p.Ile2629SerfsTer25 | |
| XM_011542844.1:c.6842_6846del (ATM) | XP_011541146.1:p.Ile2281SerfsTer25 | |
| XM_011542845.1:c.6578_6582del (ATM) | XP_011541147.1:p.Ile2193SerfsTer25 | |
| XM_011542847.1:c.2957_2961del (ATM) | XP_011541149.1:p.Ile986SerfsTer25 | |
| NM_001330368.1:c.641-23784_641-23780del (C11orf65) | NP_001317297.1:n.641-23784_641-23780del | |
| NM_001351110.1:c.*38+2365_*38+2369del (C11orf65) | NP_001338039.1:n.*38+2365_*38+2369del | |
| NM_001351834.1:c.7886_7890del (ATM) | NP_001338763.1:p.Ile2629SerfsTer25 | |
| NR_147053.2:n.2375-1288_2375-1284del (C11orf65) | ||
| XM_005271414.4:c.*39-1288_*39-1284del (C11orf65) | XP_005271471.1:n.*39-1288_*39-1284del | |
| XM_005271415.4:c.805-1288_805-1284del (C11orf65) | XP_005271472.1:n.805-1288_805-1284del | |
| XM_005271562.5:c.7886_7890del (ATM) | XP_005271619.2:p.Ile2629SerfsTer25 | |
| XM_006718843.4:c.7886_7890del (ATM) | XP_006718906.1:p.Ile2629SerfsTer25 | |
| XM_006718845.2:c.3842_3846del (ATM) | XP_006718908.1:p.Ile1281SerfsTer25 | |
| XM_011542840.3:c.7886_7890del (ATM) | XP_011541142.1:p.Ile2629SerfsTer25 | |
| XM_011542842.3:c.7721_7725del (ATM) | XP_011541144.1:p.Ile2574SerfsTer25 | |
| XM_011542843.2:c.7886_7890del (ATM) | XP_011541145.1:p.Ile2629SerfsTer25 | |
| XM_011542844.3:c.6842_6846del (ATM) | XP_011541146.1:p.Ile2281SerfsTer25 | |
| XM_011542845.2:c.6578_6582del (ATM) | XP_011541147.1:p.Ile2193SerfsTer25 | |
| XM_017017789.2:c.7886_7890del (ATM) | XP_016873278.1:p.Ile2629SerfsTer25 | |
| XM_017017790.2:c.7886_7890del (ATM) | XP_016873279.1:p.Ile2629SerfsTer25 | |
| NM_001330368.2:c.641-23784_641-23780del (C11orf65) | NP_001317297.1:n.641-23784_641-23780del | |
| NM_001351110.2:c.*38+2365_*38+2369del (C11orf65) | NP_001338039.1:n.*38+2365_*38+2369del | |
| NM_001351834.2:c.7886_7890del (ATM) | NP_001338763.1:p.Ile2629SerfsTer25 | |
| NM_000051.4:c.7886_7890del (ATM) MANE Select | NP_000042.3:p.Ile2629SerfsTer25 | |
| NR_147053.3:n.2373-1288_2373-1284del (C11orf65) |