Linked Data
ClinVar Variation Id:
181864
dbSNP Id:
rs730881293
gnomAD v4:
11-108332808-G-GGA
MyVariant Identifiers:
chr11:g.108203538_108203539dupGA (hg19)
chr11:g.108332811_108332812dupGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332811_108332812dup , CM000673.2:g.108332811_108332812dup | GRCh38 |
| NC_000011.9:g.108203538_108203539dup , CM000673.1:g.108203538_108203539dup | GRCh37 |
| NC_000011.8:g.107708748_107708749dup | NCBI36 |
| NG_009830.1:g.114980_114981dup , LRG_135:g.114980_114981dup | |
| NG_054724.1:g.142023_142024dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7838_7839dup (ATM) | ENSP00000388058.2:p.Pro2614AspfsTer18 | |
| ENST00000713593.1:c.*7309_*7310dup (ATM) | ENSP00000518889.1:n.*7309_*7310dup | |
| ENST00000278616.9:c.7838_7839dup (ATM) | ENSP00000278616.4:p.Pro2614AspfsTer18 | |
| ENST00000525056.2:n.2257_2258dup (ATM) | ||
| ENST00000525537.3:n.1519_1520dup (ATM) | ||
| ENST00000638786.2:n.625+774_625+775dup (ATM) | ||
| ENST00000682286.1:n.2595_2596dup (ATM) | ||
| ENST00000682302.1:n.2256_2257dup (ATM) | ||
| ENST00000683174.1:n.9322_9323dup (ATM) | ||
| ENST00000683524.1:n.3062_3063dup (ATM) | ||
| ENST00000684152.1:n.3344-1075_3344-1074dup (ATM) | ||
| ENST00000684180.1:n.312_313dup (ATM) | ||
| ENST00000684447.1:n.3346_3347dup (ATM) | ||
| ENST00000527805.6:c.*2902_*2903dup (ATM) | ENSP00000435747.2:n.*2902_*2903dup | |
| ENST00000675595.1:c.*2973_*2974dup (ATM) | ENSP00000502563.1:n.*2973_*2974dup | |
| ENST00000675843.1:c.7838_7839dup (ATM) MANE Select | ENSP00000501606.1:p.Pro2614AspfsTer18 | |
| ENST00000278616.8:c.7838_7839dup (ATM) | ENSP00000278616.4:p.Pro2614AspfsTer18 | |
| ENST00000452508.6:c.7838_7839dup (ATM) | ENSP00000388058.2:p.Pro2614AspfsTer18 | |
| ENST00000524755.5:c.300-1243_300-1242dup (C11orf65) | ||
| ENST00000524792.5:n.4053_4054dup (ATM) | ||
| ENST00000525056.1:n.35_36dup (ATM) | ||
| ENST00000525729.5:c.641-23739_641-23738dup (C11orf65) | ENSP00000433395.1:n.641-23739_641-23738dup | |
| ENST00000527531.5:c.*1270-1243_*1270-1242dup (C11orf65) | ENSP00000431706.1:n.*1270-1243_*1270-1242dup | |
| ENST00000533690.5:n.3242_3243dup (ATM) | ||
| ENST00000533979.5:n.50_51dup (ATM) | ||
| ENST00000615746.4:c.*1270-1243_*1270-1242dup (C11orf65) | ENSP00000483537.1:n.*1270-1243_*1270-1242dup | |
| NM_000051.3:c.7838_7839dup , LRG_135t1:c.7838_7839dup (ATM) | NP_000042.3:p.Pro2614AspfsTer18 | |
| XM_005271414.3:c.*39-1243_*39-1242dup (C11orf65) | XP_005271471.1:n.*39-1243_*39-1242dup | |
| XM_005271415.3:c.805-1243_805-1242dup (C11orf65) | XP_005271472.1:n.805-1243_805-1242dup | |
| XM_005271561.3:c.7838_7839dup (ATM) | XP_005271618.2:p.Pro2614AspfsTer18 | |
| XM_005271562.3:c.7838_7839dup (ATM) | XP_005271619.2:p.Pro2614AspfsTer18 | |
| XM_006718843.2:c.7838_7839dup (ATM) | XP_006718906.1:p.Pro2614AspfsTer18 | |
| XM_006718845.1:c.3794_3795dup (ATM) | XP_006718908.1:p.Pro1266AspfsTer18 | |
| XM_011542840.1:c.7838_7839dup (ATM) | XP_011541142.1:p.Pro2614AspfsTer18 | |
| XM_011542841.1:c.7838_7839dup (ATM) | XP_011541143.1:p.Pro2614AspfsTer18 | |
| XM_011542842.1:c.7673_7674dup (ATM) | XP_011541144.1:p.Pro2559AspfsTer18 | |
| XM_011542843.1:c.7838_7839dup (ATM) | XP_011541145.1:p.Pro2614AspfsTer18 | |
| XM_011542844.1:c.6794_6795dup (ATM) | XP_011541146.1:p.Pro2266AspfsTer18 | |
| XM_011542845.1:c.6530_6531dup (ATM) | XP_011541147.1:p.Pro2178AspfsTer18 | |
| XM_011542847.1:c.2909_2910dup (ATM) | XP_011541149.1:p.Pro971AspfsTer18 | |
| NM_001330368.1:c.641-23739_641-23738dup (C11orf65) | NP_001317297.1:n.641-23739_641-23738dup | |
| NM_001351110.1:c.*38+2410_*38+2411dup (C11orf65) | NP_001338039.1:n.*38+2410_*38+2411dup | |
| NM_001351834.1:c.7838_7839dup (ATM) | NP_001338763.1:p.Pro2614AspfsTer18 | |
| NR_147053.2:n.2375-1243_2375-1242dup (C11orf65) | ||
| XM_005271414.4:c.*39-1243_*39-1242dup (C11orf65) | XP_005271471.1:n.*39-1243_*39-1242dup | |
| XM_005271415.4:c.805-1243_805-1242dup (C11orf65) | XP_005271472.1:n.805-1243_805-1242dup | |
| XM_005271562.5:c.7838_7839dup (ATM) | XP_005271619.2:p.Pro2614AspfsTer18 | |
| XM_006718843.4:c.7838_7839dup (ATM) | XP_006718906.1:p.Pro2614AspfsTer18 | |
| XM_006718845.2:c.3794_3795dup (ATM) | XP_006718908.1:p.Pro1266AspfsTer18 | |
| XM_011542840.3:c.7838_7839dup (ATM) | XP_011541142.1:p.Pro2614AspfsTer18 | |
| XM_011542842.3:c.7673_7674dup (ATM) | XP_011541144.1:p.Pro2559AspfsTer18 | |
| XM_011542843.2:c.7838_7839dup (ATM) | XP_011541145.1:p.Pro2614AspfsTer18 | |
| XM_011542844.3:c.6794_6795dup (ATM) | XP_011541146.1:p.Pro2266AspfsTer18 | |
| XM_011542845.2:c.6530_6531dup (ATM) | XP_011541147.1:p.Pro2178AspfsTer18 | |
| XM_017017789.2:c.7838_7839dup (ATM) | XP_016873278.1:p.Pro2614AspfsTer18 | |
| XM_017017790.2:c.7838_7839dup (ATM) | XP_016873279.1:p.Pro2614AspfsTer18 | |
| NM_001330368.2:c.641-23739_641-23738dup (C11orf65) | NP_001317297.1:n.641-23739_641-23738dup | |
| NM_001351110.2:c.*38+2410_*38+2411dup (C11orf65) | NP_001338039.1:n.*38+2410_*38+2411dup | |
| NM_001351834.2:c.7838_7839dup (ATM) | NP_001338763.1:p.Pro2614AspfsTer18 | |
| NM_000051.4:c.7838_7839dup (ATM) MANE Select | NP_000042.3:p.Pro2614AspfsTer18 | |
| NR_147053.3:n.2373-1243_2373-1242dup (C11orf65) |