Linked Data
dbSNP Id:
rs1367450182
gnomAD v2:
11-108203626-A-AAAAAC
gnomAD v4:
11-108332899-A-AAAAAC
MyVariant Identifiers:
chr11:g.108203626_108203627insAAAAC (hg19)
chr11:g.108332899_108332900insAAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108332900_108332901insAAACA , CM000673.2:g.108332900_108332901insAAACA | GRCh38 |
| NC_000011.9:g.108203627_108203628insAAACA , CM000673.1:g.108203627_108203628insAAACA | GRCh37 |
| NC_000011.8:g.107708837_107708838insAAACA | NCBI36 |
| NG_009830.1:g.115069_115070insAAACA , LRG_135:g.115069_115070insAAACA | |
| NG_054724.1:g.141933_141934insGTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7927_7927+1insAAACA (ATM) | ENSP00000388058.2:p.Gly2644ThrfsTer4 | |
| ENST00000713593.1:c.*7398_*7398+1insAAACA (ATM) | ENSP00000518889.1:n.*7398_*7398+1insAAACA | |
| ENST00000278616.9:c.7927_7927+1insAAACA (ATM) | ENSP00000278616.4:p.Gly2644ThrfsTer4 | |
| ENST00000525056.2:n.2346_2346+1insAAACA (ATM) | ||
| ENST00000525537.3:n.1608_1609insAAACA (ATM) | ||
| ENST00000638786.2:n.625+863_625+864insAAACA (ATM) | ||
| ENST00000682286.1:n.2684_2684+1insAAACA (ATM) | ||
| ENST00000682302.1:n.2345_2345+1insAAACA (ATM) | ||
| ENST00000683174.1:n.9411_9411+1insAAACA (ATM) | ||
| ENST00000683524.1:n.3151_3151+1insAAACA (ATM) | ||
| ENST00000684152.1:n.3344-986_3344-985insAAACA (ATM) | ||
| ENST00000684180.1:n.401_401+1insAAACA (ATM) | ||
| ENST00000684447.1:n.3435_3436insAAACA (ATM) | ||
| ENST00000527805.6:c.*2991_*2991+1insAAACA (ATM) | ENSP00000435747.2:n.*2991_*2991+1insAAACA | |
| ENST00000675595.1:c.*3062_*3062+1insAAACA (ATM) | ENSP00000502563.1:n.*3062_*3062+1insAAACA | |
| ENST00000675843.1:c.7927_7927+1insAAACA (ATM) MANE Select | ENSP00000501606.1:p.Gly2644ThrfsTer4 | |
| ENST00000278616.8:c.7927_7927+1insAAACA (ATM) | ENSP00000278616.4:p.Gly2644ThrfsTer4 | |
| ENST00000452508.6:c.7927_7927+1insAAACA (ATM) | ENSP00000388058.2:p.Gly2644ThrfsTer4 | |
| ENST00000524755.5:c.300-1333_300-1332insGTTTT (C11orf65) | ||
| ENST00000524792.5:n.4142_4142+1insAAACA (ATM) | ||
| ENST00000525056.1:n.124_124+1insAAACA (ATM) | ||
| ENST00000525729.5:c.641-23829_641-23828insGTTTT (C11orf65) | ENSP00000433395.1:n.641-23829_641-23828insGTTTT | |
| ENST00000527531.5:c.*1270-1333_*1270-1332insGTTTT (C11orf65) | ENSP00000431706.1:n.*1270-1333_*1270-1332insGTTTT | |
| ENST00000533690.5:n.3331_3331+1insAAACA (ATM) | ||
| ENST00000533979.5:n.139_139+1insAAACA (ATM) | ||
| ENST00000615746.4:c.*1270-1333_*1270-1332insGTTTT (C11orf65) | ENSP00000483537.1:n.*1270-1333_*1270-1332insGTTTT | |
| NM_000051.3:c.7927_7927+1insAAACA , LRG_135t1:c.7927_7927+1insAAACA (ATM) | NP_000042.3:p.Gly2644ThrfsTer4 | |
| XM_005271414.3:c.*39-1333_*39-1332insGTTTT (C11orf65) | XP_005271471.1:n.*39-1333_*39-1332insGTTTT | |
| XM_005271415.3:c.805-1333_805-1332insGTTTT (C11orf65) | XP_005271472.1:n.805-1333_805-1332insGTTTT | |
| XM_005271561.3:c.7927_7927+1insAAACA (ATM) | XP_005271618.2:p.Gly2644ThrfsTer4 | |
| XM_005271562.3:c.7927_7927+1insAAACA (ATM) | XP_005271619.2:p.Gly2644ThrfsTer4 | |
| XM_006718843.2:c.7927_7927+1insAAACA (ATM) | XP_006718906.1:p.Gly2644ThrfsTer4 | |
| XM_006718845.1:c.3883_3883+1insAAACA (ATM) | XP_006718908.1:p.Gly1296ThrfsTer4 | |
| XM_011542840.1:c.7927_7927+1insAAACA (ATM) | XP_011541142.1:p.Gly2644ThrfsTer4 | |
| XM_011542841.1:c.7927_7927+1insAAACA (ATM) | XP_011541143.1:p.Gly2644ThrfsTer4 | |
| XM_011542842.1:c.7762_7762+1insAAACA (ATM) | XP_011541144.1:p.Gly2589ThrfsTer4 | |
| XM_011542843.1:c.7927_7927+1insAAACA (ATM) | XP_011541145.1:p.Gly2644ThrfsTer4 | |
| XM_011542844.1:c.6883_6883+1insAAACA (ATM) | XP_011541146.1:p.Gly2296ThrfsTer4 | |
| XM_011542845.1:c.6619_6619+1insAAACA (ATM) | XP_011541147.1:p.Gly2208ThrfsTer4 | |
| XM_011542847.1:c.2998_2998+1insAAACA (ATM) | XP_011541149.1:p.Gly1001ThrfsTer4 | |
| NM_001330368.1:c.641-23829_641-23828insGTTTT (C11orf65) | NP_001317297.1:n.641-23829_641-23828insGTTTT | |
| NM_001351110.1:c.*38+2320_*38+2321insGTTTT (C11orf65) | NP_001338039.1:n.*38+2320_*38+2321insGTTTT | |
| NM_001351834.1:c.7927_7927+1insAAACA (ATM) | NP_001338763.1:p.Gly2644ThrfsTer4 | |
| NR_147053.2:n.2375-1333_2375-1332insGTTTT (C11orf65) | ||
| XM_005271414.4:c.*39-1333_*39-1332insGTTTT (C11orf65) | XP_005271471.1:n.*39-1333_*39-1332insGTTTT | |
| XM_005271415.4:c.805-1333_805-1332insGTTTT (C11orf65) | XP_005271472.1:n.805-1333_805-1332insGTTTT | |
| XM_005271562.5:c.7927_7927+1insAAACA (ATM) | XP_005271619.2:p.Gly2644ThrfsTer4 | |
| XM_006718843.4:c.7927_7927+1insAAACA (ATM) | XP_006718906.1:p.Gly2644ThrfsTer4 | |
| XM_006718845.2:c.3883_3883+1insAAACA (ATM) | XP_006718908.1:p.Gly1296ThrfsTer4 | |
| XM_011542840.3:c.7927_7927+1insAAACA (ATM) | XP_011541142.1:p.Gly2644ThrfsTer4 | |
| XM_011542842.3:c.7762_7762+1insAAACA (ATM) | XP_011541144.1:p.Gly2589ThrfsTer4 | |
| XM_011542843.2:c.7927_7927+1insAAACA (ATM) | XP_011541145.1:p.Gly2644ThrfsTer4 | |
| XM_011542844.3:c.6883_6883+1insAAACA (ATM) | XP_011541146.1:p.Gly2296ThrfsTer4 | |
| XM_011542845.2:c.6619_6619+1insAAACA (ATM) | XP_011541147.1:p.Gly2208ThrfsTer4 | |
| XM_017017789.2:c.7927_7927+1insAAACA (ATM) | XP_016873278.1:p.Gly2644ThrfsTer4 | |
| XM_017017790.2:c.7927_7927+1insAAACA (ATM) | XP_016873279.1:p.Gly2644ThrfsTer4 | |
| NM_001330368.2:c.641-23829_641-23828insGTTTT (C11orf65) | NP_001317297.1:n.641-23829_641-23828insGTTTT | |
| NM_001351110.2:c.*38+2320_*38+2321insGTTTT (C11orf65) | NP_001338039.1:n.*38+2320_*38+2321insGTTTT | |
| NM_001351834.2:c.7927_7927+1insAAACA (ATM) | NP_001338763.1:p.Gly2644ThrfsTer4 | |
| NM_000051.4:c.7927_7927+1insAAACA (ATM) MANE Select | NP_000042.3:p.Gly2644ThrfsTer4 | |
| NR_147053.3:n.2373-1333_2373-1332insGTTTT (C11orf65) |