Linked Data
ClinVar Variation Id:
187035
dbSNP Id:
rs786203421
ExAC:
11:108198391 TTACA / T
gnomAD v2:
11-108198391-TTACA-T
gnomAD v3:
11-108327664-TTACA-T
gnomAD v4:
11-108327664-TTACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108327669_108327672del , CM000673.2:g.108327669_108327672del | GRCh38 |
| NC_000011.9:g.108198396_108198399del , CM000673.1:g.108198396_108198399del | GRCh37 |
| NC_000011.8:g.107703606_107703609del | NCBI36 |
| NG_009830.1:g.109838_109841del , LRG_135:g.109838_109841del | |
| NG_054724.1:g.147165_147168del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7000_7003del (ATM) | ENSP00000388058.2:p.Tyr2334GlnfsTer4 | |
| ENST00000713593.1:c.*6471_*6474del (ATM) | ENSP00000518889.1:n.*6471_*6474del | |
| ENST00000278616.9:c.7000_7003del (ATM) | ENSP00000278616.4:p.Tyr2334GlnfsTer4 | |
| ENST00000525056.2:n.1419_1422del (ATM) | ||
| ENST00000682286.1:n.1757_1760del (ATM) | ||
| ENST00000682302.1:n.1418_1421del (ATM) | ||
| ENST00000683174.1:n.8484_8487del (ATM) | ||
| ENST00000683524.1:n.2224_2227del (ATM) | ||
| ENST00000684152.1:n.2714_2717del (ATM) | ||
| ENST00000684447.1:n.1463_1466del (ATM) | ||
| ENST00000527805.6:c.*2064_*2067del (ATM) | ENSP00000435747.2:n.*2064_*2067del | |
| ENST00000675595.1:c.*2135_*2138del (ATM) | ENSP00000502563.1:n.*2135_*2138del | |
| ENST00000675843.1:c.7000_7003del (ATM) MANE Select | ENSP00000501606.1:p.Tyr2334GlnfsTer4 | |
| ENST00000278616.8:c.7000_7003del (ATM) | ENSP00000278616.4:p.Tyr2334GlnfsTer4 | |
| ENST00000452508.6:c.7000_7003del (ATM) | ENSP00000388058.2:p.Tyr2334GlnfsTer4 | |
| ENST00000524792.5:n.3215_3218del (ATM) | ||
| ENST00000525537.2:n.276_279del (ATM) | ||
| ENST00000525729.5:c.641-18597_641-18594del (C11orf65) | ENSP00000433395.1:n.641-18597_641-18594de... | |
| ENST00000527389.2:n.25_28del (ATM) | ||
| ENST00000533690.5:n.2404_2407del (ATM) | ||
| NM_000051.3:c.7000_7003del , LRG_135t1:c.7000_7003del (ATM) | NP_000042.3:p.Tyr2334GlnfsTer4 | |
| XM_005271561.3:c.7000_7003del (ATM) | XP_005271618.2:p.Tyr2334GlnfsTer4 | |
| XM_005271562.3:c.7000_7003del (ATM) | XP_005271619.2:p.Tyr2334GlnfsTer4 | |
| XM_006718843.2:c.7000_7003del (ATM) | XP_006718906.1:p.Tyr2334GlnfsTer4 | |
| XM_006718845.1:c.2956_2959del (ATM) | XP_006718908.1:p.Tyr986GlnfsTer4 | |
| XM_011542840.1:c.7000_7003del (ATM) | XP_011541142.1:p.Tyr2334GlnfsTer4 | |
| XM_011542841.1:c.7000_7003del (ATM) | XP_011541143.1:p.Tyr2334GlnfsTer4 | |
| XM_011542842.1:c.6835_6838del (ATM) | XP_011541144.1:p.Tyr2279GlnfsTer4 | |
| XM_011542843.1:c.7000_7003del (ATM) | XP_011541145.1:p.Tyr2334GlnfsTer4 | |
| XM_011542844.1:c.5956_5959del (ATM) | XP_011541146.1:p.Tyr1986GlnfsTer4 | |
| XM_011542845.1:c.5692_5695del (ATM) | XP_011541147.1:p.Tyr1898GlnfsTer4 | |
| XM_011542847.1:c.2071_2074del (ATM) | XP_011541149.1:p.Tyr691GlnfsTer4 | |
| NM_001330368.1:c.641-18597_641-18594del (C11orf65) | NP_001317297.1:n.641-18597_641-18594del | |
| NM_001351110.1:c.*38+7552_*38+7555del (C11orf65) | NP_001338039.1:n.*38+7552_*38+7555del | |
| NM_001351834.1:c.7000_7003del (ATM) | NP_001338763.1:p.Tyr2334GlnfsTer4 | |
| XM_005271562.5:c.7000_7003del (ATM) | XP_005271619.2:p.Tyr2334GlnfsTer4 | |
| XM_006718843.4:c.7000_7003del (ATM) | XP_006718906.1:p.Tyr2334GlnfsTer4 | |
| XM_006718845.2:c.2956_2959del (ATM) | XP_006718908.1:p.Tyr986GlnfsTer4 | |
| XM_011542840.3:c.7000_7003del (ATM) | XP_011541142.1:p.Tyr2334GlnfsTer4 | |
| XM_011542842.3:c.6835_6838del (ATM) | XP_011541144.1:p.Tyr2279GlnfsTer4 | |
| XM_011542843.2:c.7000_7003del (ATM) | XP_011541145.1:p.Tyr2334GlnfsTer4 | |
| XM_011542844.3:c.5956_5959del (ATM) | XP_011541146.1:p.Tyr1986GlnfsTer4 | |
| XM_011542845.2:c.5692_5695del (ATM) | XP_011541147.1:p.Tyr1898GlnfsTer4 | |
| XM_017017789.2:c.7000_7003del (ATM) | XP_016873278.1:p.Tyr2334GlnfsTer4 | |
| XM_017017790.2:c.7000_7003del (ATM) | XP_016873279.1:p.Tyr2334GlnfsTer4 | |
| NM_001330368.2:c.641-18597_641-18594del (C11orf65) | NP_001317297.1:n.641-18597_641-18594del | |
| NM_001351110.2:c.*38+7552_*38+7555del (C11orf65) | NP_001338039.1:n.*38+7552_*38+7555del | |
| NM_001351834.2:c.7000_7003del (ATM) | NP_001338763.1:p.Tyr2334GlnfsTer4 | |
| NM_000051.4:c.7000_7003del (ATM) MANE Select | NP_000042.3:p.Tyr2334GlnfsTer4 |