Linked Data
ClinVar Variation Id:
1277848
ClinVar RCV Id:
RCV001693005
dbSNP Id:
rs1379004351
gnomAD v2:
11-108224789-CACACACAA-C
gnomAD v3:
11-108354062-CACACACAA-C
gnomAD v4:
11-108354062-CACACACAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108354070_108354077del , CM000673.2:g.108354070_108354077del | GRCh38 |
| NC_000011.9:g.108224797_108224804del , CM000673.1:g.108224797_108224804del | GRCh37 |
| NC_000011.8:g.107730007_107730014del | NCBI36 |
| NG_009830.1:g.136239_136246del , LRG_135:g.136239_136246del | |
| NG_054724.1:g.120763_120770del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8786+190_8786+197del (ATM) | ENSP00000388058.2:n.8786+190_8786+197del | |
| ENST00000713593.1:c.*8257+190_*8257+197del (ATM) | ENSP00000518889.1:n.*8257+190_*8257+197del | |
| ENST00000278616.9:c.8786+190_8786+197del (ATM) | ENSP00000278616.4:n.8786+190_8786+197del | |
| ENST00000638786.2:n.1484+190_1484+197del (ATM) | ||
| ENST00000682286.1:n.3543+190_3543+197del (ATM) | ||
| ENST00000682302.1:n.3204+190_3204+197del (ATM) | ||
| ENST00000683174.1:n.10270+190_10270+197del (ATM) | ||
| ENST00000683524.1:n.4010+190_4010+197del (ATM) | ||
| ENST00000684152.1:n.4202+190_4202+197del (ATM) | ||
| ENST00000684180.1:n.1260+190_1260+197del (ATM) | ||
| ENST00000684447.1:n.5279+190_5279+197del (ATM) | ||
| ENST00000527805.6:c.*3850+190_*3850+197del (ATM) | ENSP00000435747.2:n.*3850+190_*3850+197del | |
| ENST00000675595.1:c.*3921+190_*3921+197del (ATM) | ENSP00000502563.1:n.*3921+190_*3921+197del | |
| ENST00000675843.1:c.8786+190_8786+197del (ATM) MANE Select | ENSP00000501606.1:n.8786+190_8786+197del | |
| ENST00000278616.8:c.8786+190_8786+197del (ATM) | ENSP00000278616.4:n.8786+190_8786+197del | |
| ENST00000452508.6:c.8786+190_8786+197del (ATM) | ENSP00000388058.2:n.8786+190_8786+197del | |
| ENST00000524755.5:c.227-18778_227-18771del (C11orf65) | ||
| ENST00000524792.5:n.5001+190_5001+197del (ATM) | ||
| ENST00000525178.5:n.274+190_274+197del (ATM) | ||
| ENST00000525729.5:c.640+31850_640+31857del (C11orf65) | ENSP00000433395.1:n.640+31850_640+31857del | |
| ENST00000526725.1:n.272-13706_272-13699del (C11orf65) | ||
| ENST00000527181.1:n.125+190_125+197del (ATM) | ||
| ENST00000527531.5:c.*1196+845_*1196+852del (C11orf65) | ENSP00000431706.1:n.*1196+845_*1196+852del | |
| ENST00000615746.4:c.*1196+845_*1196+852del (C11orf65) | ENSP00000483537.1:n.*1196+845_*1196+852del | |
| NM_000051.3:c.8786+190_8786+197del , LRG_135t1:c.8786+190_8786+197del (ATM) | NP_000042.3:n.8786+190_8786+197del | |
| XM_005271414.3:c.788-18778_788-18771del (C11orf65) | XP_005271471.1:n.788-18778_788-18771del | |
| XM_005271415.3:c.732-18778_732-18771del (C11orf65) | XP_005271472.1:n.732-18778_732-18771del | |
| XM_005271561.3:c.8786+190_8786+197del (ATM) | XP_005271618.2:n.8786+190_8786+197del | |
| XM_005271562.3:c.8786+190_8786+197del (ATM) | XP_005271619.2:n.8786+190_8786+197del | |
| XM_006718843.2:c.8786+190_8786+197del (ATM) | XP_006718906.1:n.8786+190_8786+197del | |
| XM_006718845.1:c.4742+190_4742+197del (ATM) | XP_006718908.1:n.4742+190_4742+197del | |
| XM_011542640.1:c.788-13706_788-13699del (C11orf65) | XP_011540942.1:n.788-13706_788-13699del | |
| XM_011542642.1:c.732-4997_732-4990del (C11orf65) | XP_011540944.1:n.732-4997_732-4990del | |
| XM_011542643.1:c.732-13706_732-13699del (C11orf65) | XP_011540945.1:n.732-13706_732-13699del | |
| XM_011542840.1:c.8786+190_8786+197del (ATM) | XP_011541142.1:n.8786+190_8786+197del | |
| XM_011542841.1:c.8786+190_8786+197del (ATM) | XP_011541143.1:n.8786+190_8786+197del | |
| XM_011542842.1:c.8621+190_8621+197del (ATM) | XP_011541144.1:n.8621+190_8621+197del | |
| XM_011542844.1:c.7742+190_7742+197del (ATM) | XP_011541146.1:n.7742+190_7742+197del | |
| XM_011542845.1:c.7478+190_7478+197del (ATM) | XP_011541147.1:n.7478+190_7478+197del | |
| XM_011542847.1:c.3857+190_3857+197del (ATM) | XP_011541149.1:n.3857+190_3857+197del | |
| NM_001330368.1:c.640+31850_640+31857del (C11orf65) | NP_001317297.1:n.640+31850_640+31857del | |
| NM_001351110.1:c.695-18778_695-18771del (C11orf65) | NP_001338039.1:n.695-18778_695-18771del | |
| NM_001351834.1:c.8786+190_8786+197del (ATM) | NP_001338763.1:n.8786+190_8786+197del | |
| NR_147053.2:n.2301+845_2301+852del (C11orf65) | ||
| XM_005271414.4:c.788-18778_788-18771del (C11orf65) | XP_005271471.1:n.788-18778_788-18771del | |
| XM_005271415.4:c.732-18778_732-18771del (C11orf65) | XP_005271472.1:n.732-18778_732-18771del | |
| XM_005271562.5:c.8786+190_8786+197del (ATM) | XP_005271619.2:n.8786+190_8786+197del | |
| XM_006718843.4:c.8786+190_8786+197del (ATM) | XP_006718906.1:n.8786+190_8786+197del | |
| XM_006718845.2:c.4742+190_4742+197del (ATM) | XP_006718908.1:n.4742+190_4742+197del | |
| XM_011542640.2:c.788-13706_788-13699del (C11orf65) | XP_011540942.1:n.788-13706_788-13699del | |
| XM_011542643.2:c.732-13706_732-13699del (C11orf65) | XP_011540945.1:n.732-13706_732-13699del | |
| XM_011542840.3:c.8786+190_8786+197del (ATM) | XP_011541142.1:n.8786+190_8786+197del | |
| XM_011542842.3:c.8621+190_8621+197del (ATM) | XP_011541144.1:n.8621+190_8621+197del | |
| XM_011542844.3:c.7742+190_7742+197del (ATM) | XP_011541146.1:n.7742+190_7742+197del | |
| XM_011542845.2:c.7478+190_7478+197del (ATM) | XP_011541147.1:n.7478+190_7478+197del | |
| XM_017017247.1:c.904-13706_904-13699del (C11orf65) | XP_016872736.1:n.904-13706_904-13699del | |
| XM_017017789.2:c.8786+190_8786+197del (ATM) | XP_016873278.1:n.8786+190_8786+197del | |
| XM_017017790.2:c.8786+190_8786+197del (ATM) | XP_016873279.1:n.8786+190_8786+197del | |
| NM_001330368.2:c.640+31850_640+31857del (C11orf65) | NP_001317297.1:n.640+31850_640+31857del | |
| NM_001351110.2:c.695-18778_695-18771del (C11orf65) | NP_001338039.1:n.695-18778_695-18771del | |
| NM_001351834.2:c.8786+190_8786+197del (ATM) | NP_001338763.1:n.8786+190_8786+197del | |
| NM_000051.4:c.8786+190_8786+197del (ATM) MANE Select | NP_000042.3:n.8786+190_8786+197del | |
| NR_147053.3:n.2299+845_2299+852del (C11orf65) |