Linked Data
ClinVar Variation Id:
419910
dbSNP Id:
rs1555110517
MyVariant Identifiers:
chr11:g.108181018_108181024dupAAAGTAT (hg19)
chr11:g.108310291_108310297dupAAAGTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108310291_108310297dup , CM000673.2:g.108310291_108310297dup | GRCh38 |
| NC_000011.9:g.108181018_108181024dup , CM000673.1:g.108181018_108181024dup | GRCh37 |
| NC_000011.8:g.107686228_107686234dup | NCBI36 |
| NG_009830.1:g.92460_92466dup , LRG_135:g.92460_92466dup | |
| NG_054724.1:g.164536_164542dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5894_5900dup (ATM) | ENSP00000388058.2:p.Met1967IlefsTer5 | |
| ENST00000713593.1:c.*5365_*5371dup (ATM) | ENSP00000518889.1:n.*5365_*5371dup | |
| ENST00000278616.9:c.5894_5900dup (ATM) | ENSP00000278616.4:p.Met1967IlefsTer5 | |
| ENST00000525056.2:n.313_319dup (ATM) | ||
| ENST00000682286.1:n.651_657dup (ATM) | ||
| ENST00000682302.1:n.312_318dup (ATM) | ||
| ENST00000683174.1:n.7378_7384dup (ATM) | ||
| ENST00000683524.1:n.1118_1124dup (ATM) | ||
| ENST00000684152.1:n.1608_1614dup (ATM) | ||
| ENST00000527805.6:c.*958_*964dup (ATM) | ENSP00000435747.2:n.*958_*964dup | |
| ENST00000675595.1:c.*958_*964dup (ATM) | ENSP00000502563.1:n.*958_*964dup | |
| ENST00000675843.1:c.5894_5900dup (ATM) MANE Select | ENSP00000501606.1:p.Met1967IlefsTer5 | |
| ENST00000278616.8:c.5894_5900dup (ATM) | ENSP00000278616.4:p.Met1967IlefsTer5 | |
| ENST00000452508.6:c.5894_5900dup (ATM) | ENSP00000388058.2:p.Met1967IlefsTer5 | |
| ENST00000524792.5:n.2109_2115dup (ATM) | ||
| ENST00000525729.5:c.641-1226_641-1220dup (C11orf65) | ENSP00000433395.1:n.641-1226_641-1220dup | |
| ENST00000529588.5:c.318_324dup (ATM) | ||
| ENST00000532765.1:n.211_217dup (ATM) | ||
| ENST00000533690.5:n.1298_1304dup (ATM) | ||
| NM_000051.3:c.5894_5900dup , LRG_135t1:c.5894_5900dup (ATM) | NP_000042.3:p.Met1967IlefsTer5 | |
| XM_005271561.3:c.5894_5900dup (ATM) | XP_005271618.2:p.Met1967IlefsTer5 | |
| XM_005271562.3:c.5894_5900dup (ATM) | XP_005271619.2:p.Met1967IlefsTer5 | |
| XM_006718843.2:c.5894_5900dup (ATM) | XP_006718906.1:p.Met1967IlefsTer5 | |
| XM_006718845.1:c.1850_1856dup (ATM) | XP_006718908.1:p.Met619IlefsTer5 | |
| XM_011542840.1:c.5894_5900dup (ATM) | XP_011541142.1:p.Met1967IlefsTer5 | |
| XM_011542841.1:c.5894_5900dup (ATM) | XP_011541143.1:p.Met1967IlefsTer5 | |
| XM_011542842.1:c.5729_5735dup (ATM) | XP_011541144.1:p.Met1912IlefsTer5 | |
| XM_011542843.1:c.5894_5900dup (ATM) | XP_011541145.1:p.Met1967IlefsTer5 | |
| XM_011542844.1:c.4850_4856dup (ATM) | XP_011541146.1:p.Met1619IlefsTer5 | |
| XM_011542845.1:c.4586_4592dup (ATM) | XP_011541147.1:p.Met1531IlefsTer5 | |
| XM_011542847.1:c.965_971dup (ATM) | XP_011541149.1:p.Met324IlefsTer5 | |
| NM_001330368.1:c.641-1226_641-1220dup (C11orf65) | NP_001317297.1:n.641-1226_641-1220dup | |
| NM_001351110.1:c.*39-1226_*39-1220dup (C11orf65) | NP_001338039.1:n.*39-1226_*39-1220dup | |
| NM_001351834.1:c.5894_5900dup (ATM) | NP_001338763.1:p.Met1967IlefsTer5 | |
| XM_005271562.5:c.5894_5900dup (ATM) | XP_005271619.2:p.Met1967IlefsTer5 | |
| XM_006718843.4:c.5894_5900dup (ATM) | XP_006718906.1:p.Met1967IlefsTer5 | |
| XM_006718845.2:c.1850_1856dup (ATM) | XP_006718908.1:p.Met619IlefsTer5 | |
| XM_011542840.3:c.5894_5900dup (ATM) | XP_011541142.1:p.Met1967IlefsTer5 | |
| XM_011542842.3:c.5729_5735dup (ATM) | XP_011541144.1:p.Met1912IlefsTer5 | |
| XM_011542843.2:c.5894_5900dup (ATM) | XP_011541145.1:p.Met1967IlefsTer5 | |
| XM_011542844.3:c.4850_4856dup (ATM) | XP_011541146.1:p.Met1619IlefsTer5 | |
| XM_011542845.2:c.4586_4592dup (ATM) | XP_011541147.1:p.Met1531IlefsTer5 | |
| XM_017017789.2:c.5894_5900dup (ATM) | XP_016873278.1:p.Met1967IlefsTer5 | |
| XM_017017790.2:c.5894_5900dup (ATM) | XP_016873279.1:p.Met1967IlefsTer5 | |
| XM_017017791.1:c.5894_5900dup (ATM) | XP_016873280.1:p.Met1967IlefsTer5 | |
| XR_002957150.1:n.6494_6500dup (ATM) | ||
| NM_001330368.2:c.641-1226_641-1220dup (C11orf65) | NP_001317297.1:n.641-1226_641-1220dup | |
| NM_001351110.2:c.*39-1226_*39-1220dup (C11orf65) | NP_001338039.1:n.*39-1226_*39-1220dup | |
| NM_001351834.2:c.5894_5900dup (ATM) | NP_001338763.1:p.Met1967IlefsTer5 | |
| NM_000051.4:c.5894_5900dup (ATM) MANE Select | NP_000042.3:p.Met1967IlefsTer5 |