Linked Data
ClinVar Variation Id:
186242
dbSNP Id:
rs786202800
gnomAD v2:
11-108214064-ATTTCAGTGCC-A
gnomAD v3:
11-108343337-ATTTCAGTGCC-A
gnomAD v4:
11-108343337-ATTTCAGTGCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108343348_108343357del , CM000673.2:g.108343348_108343357del | GRCh38 |
| NC_000011.9:g.108214075_108214084del , CM000673.1:g.108214075_108214084del | GRCh37 |
| NC_000011.8:g.107719285_107719294del | NCBI36 |
| NG_009830.1:g.125517_125526del , LRG_135:g.125517_125526del | |
| NG_054724.1:g.131486_131495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8395_8404del (ATM) | ENSP00000388058.2:p.Phe2799LysfsTer4 | |
| ENST00000713593.1:c.*7866_*7875del (ATM) | ENSP00000518889.1:n.*7866_*7875del | |
| ENST00000278616.9:c.8395_8404del (ATM) | ENSP00000278616.4:p.Phe2799LysfsTer4 | |
| ENST00000638786.2:n.1093_1102del (ATM) | ||
| ENST00000682286.1:n.3152_3161del (ATM) | ||
| ENST00000682302.1:n.2813_2822del (ATM) | ||
| ENST00000683174.1:n.9879_9888del (ATM) | ||
| ENST00000683524.1:n.3619_3628del (ATM) | ||
| ENST00000684152.1:n.3811_3820del (ATM) | ||
| ENST00000684180.1:n.869_878del (ATM) | ||
| ENST00000684447.1:n.4888_4897del (ATM) | ||
| ENST00000527805.6:c.*3459_*3468del (ATM) | ENSP00000435747.2:n.*3459_*3468del | |
| ENST00000675595.1:c.*3530_*3539del (ATM) | ENSP00000502563.1:n.*3530_*3539del | |
| ENST00000675843.1:c.8395_8404del (ATM) MANE Select | ENSP00000501606.1:p.Phe2799LysfsTer4 | |
| ENST00000278616.8:c.8395_8404del (ATM) | ENSP00000278616.4:p.Phe2799LysfsTer4 | |
| ENST00000452508.6:c.8395_8404del (ATM) | ENSP00000388058.2:p.Phe2799LysfsTer4 | |
| ENST00000524755.5:c.227-8055_227-8046del (C11orf65) | ||
| ENST00000524792.5:n.4610_4619del (ATM) | ||
| ENST00000525729.5:c.641-34276_641-34267del (C11orf65) | ENSP00000433395.1:n.641-34276_641-34267del | |
| ENST00000526725.1:n.272-2983_272-2974del (C11orf65) | ||
| ENST00000527531.5:c.*1197-8055_*1197-8046del (C11orf65) | ENSP00000431706.1:n.*1197-8055_*1197-8046del | |
| ENST00000615746.4:c.*1197-8055_*1197-8046del (C11orf65) | ENSP00000483537.1:n.*1197-8055_*1197-8046del | |
| NM_000051.3:c.8395_8404del , LRG_135t1:c.8395_8404del (ATM) | NP_000042.3:p.Phe2799LysfsTer4 | |
| XM_005271414.3:c.788-8055_788-8046del (C11orf65) | XP_005271471.1:n.788-8055_788-8046del | |
| XM_005271415.3:c.732-8055_732-8046del (C11orf65) | XP_005271472.1:n.732-8055_732-8046del | |
| XM_005271561.3:c.8395_8404del (ATM) | XP_005271618.2:p.Phe2799LysfsTer4 | |
| XM_005271562.3:c.8395_8404del (ATM) | XP_005271619.2:p.Phe2799LysfsTer4 | |
| XM_006718843.2:c.8395_8404del (ATM) | XP_006718906.1:p.Phe2799LysfsTer4 | |
| XM_006718845.1:c.4351_4360del (ATM) | XP_006718908.1:p.Phe1451LysfsTer4 | |
| XM_011542640.1:c.788-2983_788-2974del (C11orf65) | XP_011540942.1:n.788-2983_788-2974del | |
| XM_011542643.1:c.732-2983_732-2974del (C11orf65) | XP_011540945.1:n.732-2983_732-2974del | |
| XM_011542840.1:c.8395_8404del (ATM) | XP_011541142.1:p.Phe2799LysfsTer4 | |
| XM_011542841.1:c.8395_8404del (ATM) | XP_011541143.1:p.Phe2799LysfsTer4 | |
| XM_011542842.1:c.8230_8239del (ATM) | XP_011541144.1:p.Phe2744LysfsTer4 | |
| XM_011542843.1:c.8395_8404del (ATM) | XP_011541145.1:p.Phe2799LysfsTer4 | |
| XM_011542844.1:c.7351_7360del (ATM) | XP_011541146.1:p.Phe2451LysfsTer4 | |
| XM_011542845.1:c.7087_7096del (ATM) | XP_011541147.1:p.Phe2363LysfsTer4 | |
| XM_011542847.1:c.3466_3475del (ATM) | XP_011541149.1:p.Phe1156LysfsTer4 | |
| NM_001330368.1:c.641-34276_641-34267del (C11orf65) | NP_001317297.1:n.641-34276_641-34267del | |
| NM_001351110.1:c.695-8055_695-8046del (C11orf65) | NP_001338039.1:n.695-8055_695-8046del | |
| NM_001351834.1:c.8395_8404del (ATM) | NP_001338763.1:p.Phe2799LysfsTer4 | |
| NR_147053.2:n.2302-8055_2302-8046del (C11orf65) | ||
| XM_005271414.4:c.788-8055_788-8046del (C11orf65) | XP_005271471.1:n.788-8055_788-8046del | |
| XM_005271415.4:c.732-8055_732-8046del (C11orf65) | XP_005271472.1:n.732-8055_732-8046del | |
| XM_005271562.5:c.8395_8404del (ATM) | XP_005271619.2:p.Phe2799LysfsTer4 | |
| XM_006718843.4:c.8395_8404del (ATM) | XP_006718906.1:p.Phe2799LysfsTer4 | |
| XM_006718845.2:c.4351_4360del (ATM) | XP_006718908.1:p.Phe1451LysfsTer4 | |
| XM_011542640.2:c.788-2983_788-2974del (C11orf65) | XP_011540942.1:n.788-2983_788-2974del | |
| XM_011542643.2:c.732-2983_732-2974del (C11orf65) | XP_011540945.1:n.732-2983_732-2974del | |
| XM_011542840.3:c.8395_8404del (ATM) | XP_011541142.1:p.Phe2799LysfsTer4 | |
| XM_011542842.3:c.8230_8239del (ATM) | XP_011541144.1:p.Phe2744LysfsTer4 | |
| XM_011542843.2:c.8395_8404del (ATM) | XP_011541145.1:p.Phe2799LysfsTer4 | |
| XM_011542844.3:c.7351_7360del (ATM) | XP_011541146.1:p.Phe2451LysfsTer4 | |
| XM_011542845.2:c.7087_7096del (ATM) | XP_011541147.1:p.Phe2363LysfsTer4 | |
| XM_017017247.1:c.904-2983_904-2974del (C11orf65) | XP_016872736.1:n.904-2983_904-2974del | |
| XM_017017789.2:c.8395_8404del (ATM) | XP_016873278.1:p.Phe2799LysfsTer4 | |
| XM_017017790.2:c.8395_8404del (ATM) | XP_016873279.1:p.Phe2799LysfsTer4 | |
| NM_001330368.2:c.641-34276_641-34267del (C11orf65) | NP_001317297.1:n.641-34276_641-34267del | |
| NM_001351110.2:c.695-8055_695-8046del (C11orf65) | NP_001338039.1:n.695-8055_695-8046del | |
| NM_001351834.2:c.8395_8404del (ATM) | NP_001338763.1:p.Phe2799LysfsTer4 | |
| NM_000051.4:c.8395_8404del (ATM) MANE Select | NP_000042.3:p.Phe2799LysfsTer4 | |
| NR_147053.3:n.2300-8055_2300-8046del (C11orf65) |