Linked Data
ClinVar Variation Id:
1212573
ClinVar RCV Id:
RCV001586220
dbSNP Id:
rs113573757
gnomAD v2:
11-108187829-T-TAA
gnomAD v3:
11-108317102-T-TAA
gnomAD v4:
11-108317102-T-TAA
MyVariant Identifiers:
chr11:g.108187829_108187830insAA (hg19)
chr11:g.108317102_108317103insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108317102_108317103insAA , CM000673.2:g.108317102_108317103insAA | GRCh38 |
| NC_000011.9:g.108187829_108187830insAA , CM000673.1:g.108187829_108187830insAA | GRCh37 |
| NC_000011.8:g.107693039_107693040insAA | NCBI36 |
| NG_009830.1:g.99271_99272insAA , LRG_135:g.99271_99272insAA | |
| NG_054724.1:g.157730_157731insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6199-271_6199-270insAA (ATM) | ENSP00000388058.2:n.6199-271_6199-270insAA | |
| ENST00000713593.1:c.*5670-271_*5670-270insAA (ATM) | ENSP00000518889.1:n.*5670-271_*5670-270insAA | |
| ENST00000278616.9:c.6199-271_6199-270insAA (ATM) | ENSP00000278616.4:n.6199-271_6199-270insAA | |
| ENST00000525056.2:n.618-271_618-270insAA (ATM) | ||
| ENST00000682286.1:n.956-271_956-270insAA (ATM) | ||
| ENST00000682302.1:n.617-271_617-270insAA (ATM) | ||
| ENST00000683174.1:n.7683-271_7683-270insAA (ATM) | ||
| ENST00000683524.1:n.1423-271_1423-270insAA (ATM) | ||
| ENST00000684152.1:n.1913-271_1913-270insAA (ATM) | ||
| ENST00000527805.6:c.*1263-271_*1263-270insAA (ATM) | ENSP00000435747.2:n.*1263-271_*1263-270insAA | |
| ENST00000675595.1:c.*1263-271_*1263-270insAA (ATM) | ENSP00000502563.1:n.*1263-271_*1263-270insAA | |
| ENST00000675843.1:c.6199-271_6199-270insAA (ATM) MANE Select | ENSP00000501606.1:n.6199-271_6199-270insAA | |
| ENST00000278616.8:c.6199-271_6199-270insAA (ATM) | ENSP00000278616.4:n.6199-271_6199-270insAA | |
| ENST00000452508.6:c.6199-271_6199-270insAA (ATM) | ENSP00000388058.2:n.6199-271_6199-270insAA | |
| ENST00000524792.5:n.2414-271_2414-270insAA (ATM) | ||
| ENST00000525729.5:c.641-8032_641-8031insTT (C11orf65) | ENSP00000433395.1:n.641-8032_641-8031insTT | |
| ENST00000532765.1:n.516-271_516-270insAA (ATM) | ||
| ENST00000533690.5:n.1603-271_1603-270insAA (ATM) | ||
| NM_000051.3:c.6199-271_6199-270insAA , LRG_135t1:c.6199-271_6199-270insAA (ATM) | NP_000042.3:n.6199-271_6199-270insAA | |
| XM_005271561.3:c.6199-271_6199-270insAA (ATM) | XP_005271618.2:n.6199-271_6199-270insAA | |
| XM_005271562.3:c.6199-271_6199-270insAA (ATM) | XP_005271619.2:n.6199-271_6199-270insAA | |
| XM_006718843.2:c.6199-271_6199-270insAA (ATM) | XP_006718906.1:n.6199-271_6199-270insAA | |
| XM_006718845.1:c.2155-271_2155-270insAA (ATM) | XP_006718908.1:n.2155-271_2155-270insAA | |
| XM_011542840.1:c.6199-271_6199-270insAA (ATM) | XP_011541142.1:n.6199-271_6199-270insAA | |
| XM_011542841.1:c.6199-271_6199-270insAA (ATM) | XP_011541143.1:n.6199-271_6199-270insAA | |
| XM_011542842.1:c.6034-271_6034-270insAA (ATM) | XP_011541144.1:n.6034-271_6034-270insAA | |
| XM_011542843.1:c.6199-271_6199-270insAA (ATM) | XP_011541145.1:n.6199-271_6199-270insAA | |
| XM_011542844.1:c.5155-271_5155-270insAA (ATM) | XP_011541146.1:n.5155-271_5155-270insAA | |
| XM_011542845.1:c.4891-271_4891-270insAA (ATM) | XP_011541147.1:n.4891-271_4891-270insAA | |
| XM_011542847.1:c.1270-271_1270-270insAA (ATM) | XP_011541149.1:n.1270-271_1270-270insAA | |
| NM_001330368.1:c.641-8032_641-8031insTT (C11orf65) | NP_001317297.1:n.641-8032_641-8031insTT | |
| NM_001351110.1:c.*39-8032_*39-8031insTT (C11orf65) | NP_001338039.1:n.*39-8032_*39-8031insTT | |
| NM_001351834.1:c.6199-271_6199-270insAA (ATM) | NP_001338763.1:n.6199-271_6199-270insAA | |
| XM_005271562.5:c.6199-271_6199-270insAA (ATM) | XP_005271619.2:n.6199-271_6199-270insAA | |
| XM_006718843.4:c.6199-271_6199-270insAA (ATM) | XP_006718906.1:n.6199-271_6199-270insAA | |
| XM_006718845.2:c.2155-271_2155-270insAA (ATM) | XP_006718908.1:n.2155-271_2155-270insAA | |
| XM_011542840.3:c.6199-271_6199-270insAA (ATM) | XP_011541142.1:n.6199-271_6199-270insAA | |
| XM_011542842.3:c.6034-271_6034-270insAA (ATM) | XP_011541144.1:n.6034-271_6034-270insAA | |
| XM_011542843.2:c.6199-271_6199-270insAA (ATM) | XP_011541145.1:n.6199-271_6199-270insAA | |
| XM_011542844.3:c.5155-271_5155-270insAA (ATM) | XP_011541146.1:n.5155-271_5155-270insAA | |
| XM_011542845.2:c.4891-271_4891-270insAA (ATM) | XP_011541147.1:n.4891-271_4891-270insAA | |
| XM_017017789.2:c.6199-271_6199-270insAA (ATM) | XP_016873278.1:n.6199-271_6199-270insAA | |
| XM_017017790.2:c.6199-271_6199-270insAA (ATM) | XP_016873279.1:n.6199-271_6199-270insAA | |
| XM_017017791.1:c.6199-271_6199-270insAA (ATM) | XP_016873280.1:n.6199-271_6199-270insAA | |
| NM_001330368.2:c.641-8032_641-8031insTT (C11orf65) | NP_001317297.1:n.641-8032_641-8031insTT | |
| NM_001351110.2:c.*39-8032_*39-8031insTT (C11orf65) | NP_001338039.1:n.*39-8032_*39-8031insTT | |
| NM_001351834.2:c.6199-271_6199-270insAA (ATM) | NP_001338763.1:n.6199-271_6199-270insAA | |
| NM_000051.4:c.6199-271_6199-270insAA (ATM) MANE Select | NP_000042.3:n.6199-271_6199-270insAA |