Linked Data
ClinVar Variation Id:
1452666
ClinVar RCV Id:
RCV001994609
dbSNP Id:
rs2137350203
gnomAD v4:
11-108354840-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108354842_108354843del , CM000673.2:g.108354842_108354843del | GRCh38 |
| NC_000011.9:g.108225569_108225570del , CM000673.1:g.108225569_108225570del | GRCh37 |
| NC_000011.8:g.107730779_107730780del | NCBI36 |
| NG_009830.1:g.137011_137012del , LRG_135:g.137011_137012del | |
| NG_054724.1:g.119991_119992del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.8818_8819del (ATM) | ENSP00000388058.2:p.Asn2940LeufsTer15 | |
| ENST00000713593.1:c.*8289_*8290del (ATM) | ENSP00000518889.1:n.*8289_*8290del | |
| ENST00000278616.9:c.8818_8819del (ATM) | ENSP00000278616.4:p.Asn2940LeufsTer15 | |
| ENST00000638786.2:n.1516_1517del (ATM) | ||
| ENST00000682286.1:n.3575_3576del (ATM) | ||
| ENST00000682302.1:n.3236_3237del (ATM) | ||
| ENST00000683174.1:n.10302_10303del (ATM) | ||
| ENST00000683524.1:n.4042_4043del (ATM) | ||
| ENST00000684152.1:n.4234_4235del (ATM) | ||
| ENST00000684180.1:n.1292_1293del (ATM) | ||
| ENST00000684447.1:n.5311_5312del (ATM) | ||
| ENST00000527805.6:c.*3882_*3883del (ATM) | ENSP00000435747.2:n.*3882_*3883del | |
| ENST00000675595.1:c.*3953_*3954del (ATM) | ENSP00000502563.1:n.*3953_*3954del | |
| ENST00000675843.1:c.8818_8819del (ATM) MANE Select | ENSP00000501606.1:p.Asn2940LeufsTer15 | |
| ENST00000278616.8:c.8818_8819del (ATM) | ENSP00000278616.4:p.Asn2940LeufsTer15 | |
| ENST00000452508.6:c.8818_8819del (ATM) | ENSP00000388058.2:p.Asn2940LeufsTer15 | |
| ENST00000524755.5:c.227-19550_227-19549del (C11orf65) | ||
| ENST00000524792.5:n.5033_5034del (ATM) | ||
| ENST00000525178.5:n.306_307del (ATM) | ||
| ENST00000525729.5:c.640+31078_640+31079del (C11orf65) | ENSP00000433395.1:n.640+31078_640+31079de... | |
| ENST00000526725.1:n.272-14478_272-14477del (C11orf65) | ||
| ENST00000527181.1:n.157_158del (ATM) | ||
| ENST00000527531.5:c.*1196+73_*1196+74del (C11orf65) | ENSP00000431706.1:n.*1196+73_*1196+74del | |
| ENST00000615746.4:c.*1196+73_*1196+74del (C11orf65) | ENSP00000483537.1:n.*1196+73_*1196+74del | |
| NM_000051.3:c.8818_8819del , LRG_135t1:c.8818_8819del (ATM) | NP_000042.3:p.Asn2940LeufsTer15 | |
| XM_005271414.3:c.788-19550_788-19549del (C11orf65) | XP_005271471.1:n.788-19550_788-19549del | |
| XM_005271415.3:c.732-19550_732-19549del (C11orf65) | XP_005271472.1:n.732-19550_732-19549del | |
| XM_005271561.3:c.8818_8819del (ATM) | XP_005271618.2:p.Asn2940LeufsTer15 | |
| XM_005271562.3:c.8818_8819del (ATM) | XP_005271619.2:p.Asn2940LeufsTer15 | |
| XM_006718843.2:c.8818_8819del (ATM) | XP_006718906.1:p.Asn2940LeufsTer15 | |
| XM_006718845.1:c.4774_4775del (ATM) | XP_006718908.1:p.Asn1592LeufsTer15 | |
| XM_011542640.1:c.788-14478_788-14477del (C11orf65) | XP_011540942.1:n.788-14478_788-14477del | |
| XM_011542642.1:c.732-5769_732-5768del (C11orf65) | XP_011540944.1:n.732-5769_732-5768del | |
| XM_011542643.1:c.732-14478_732-14477del (C11orf65) | XP_011540945.1:n.732-14478_732-14477del | |
| XM_011542840.1:c.8818_8819del (ATM) | XP_011541142.1:p.Asn2940LeufsTer15 | |
| XM_011542841.1:c.8818_8819del (ATM) | XP_011541143.1:p.Asn2940LeufsTer15 | |
| XM_011542842.1:c.8653_8654del (ATM) | XP_011541144.1:p.Asn2885LeufsTer15 | |
| XM_011542844.1:c.7774_7775del (ATM) | XP_011541146.1:p.Asn2592LeufsTer15 | |
| XM_011542845.1:c.7510_7511del (ATM) | XP_011541147.1:p.Asn2504LeufsTer15 | |
| XM_011542847.1:c.3889_3890del (ATM) | XP_011541149.1:p.Asn1297LeufsTer15 | |
| NM_001330368.1:c.640+31078_640+31079del (C11orf65) | NP_001317297.1:n.640+31078_640+31079del | |
| NM_001351110.1:c.695-19550_695-19549del (C11orf65) | NP_001338039.1:n.695-19550_695-19549del | |
| NM_001351834.1:c.8818_8819del (ATM) | NP_001338763.1:p.Asn2940LeufsTer15 | |
| NR_147053.2:n.2301+73_2301+74del (C11orf65) | ||
| XM_005271414.4:c.788-19550_788-19549del (C11orf65) | XP_005271471.1:n.788-19550_788-19549del | |
| XM_005271415.4:c.732-19550_732-19549del (C11orf65) | XP_005271472.1:n.732-19550_732-19549del | |
| XM_005271562.5:c.8818_8819del (ATM) | XP_005271619.2:p.Asn2940LeufsTer15 | |
| XM_006718843.4:c.8818_8819del (ATM) | XP_006718906.1:p.Asn2940LeufsTer15 | |
| XM_006718845.2:c.4774_4775del (ATM) | XP_006718908.1:p.Asn1592LeufsTer15 | |
| XM_011542640.2:c.788-14478_788-14477del (C11orf65) | XP_011540942.1:n.788-14478_788-14477del | |
| XM_011542643.2:c.732-14478_732-14477del (C11orf65) | XP_011540945.1:n.732-14478_732-14477del | |
| XM_011542840.3:c.8818_8819del (ATM) | XP_011541142.1:p.Asn2940LeufsTer15 | |
| XM_011542842.3:c.8653_8654del (ATM) | XP_011541144.1:p.Asn2885LeufsTer15 | |
| XM_011542844.3:c.7774_7775del (ATM) | XP_011541146.1:p.Asn2592LeufsTer15 | |
| XM_011542845.2:c.7510_7511del (ATM) | XP_011541147.1:p.Asn2504LeufsTer15 | |
| XM_017017247.1:c.904-14478_904-14477del (C11orf65) | XP_016872736.1:n.904-14478_904-14477del | |
| XM_017017789.2:c.8818_8819del (ATM) | XP_016873278.1:p.Asn2940LeufsTer15 | |
| XM_017017790.2:c.8818_8819del (ATM) | XP_016873279.1:p.Asn2940LeufsTer15 | |
| NM_001330368.2:c.640+31078_640+31079del (C11orf65) | NP_001317297.1:n.640+31078_640+31079del | |
| NM_001351110.2:c.695-19550_695-19549del (C11orf65) | NP_001338039.1:n.695-19550_695-19549del | |
| NM_001351834.2:c.8818_8819del (ATM) | NP_001338763.1:p.Asn2940LeufsTer15 | |
| NM_000051.4:c.8818_8819del (ATM) MANE Select | NP_000042.3:p.Asn2940LeufsTer15 | |
| NR_147053.3:n.2299+73_2299+74del (C11orf65) |