Linked Data
ClinVar Variation Id:
418047
ClinVar RCV Id:
RCV003470522
dbSNP Id:
rs1064793046
gnomAD v4:
11-108343322-GATAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108343324_108343327del , CM000673.2:g.108343324_108343327del | GRCh38 |
| NC_000011.9:g.108214051_108214054del , CM000673.1:g.108214051_108214054del | GRCh37 |
| NC_000011.8:g.107719261_107719264del | NCBI36 |
| NG_009830.1:g.125493_125496del , LRG_135:g.125493_125496del | |
| NG_054724.1:g.131507_131510del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.8371_8374del (ATM) | ENSP00000388058.2:p.Tyr2791GlyfsTer14 | |
| ENST00000713593.1:c.*7842_*7845del (ATM) | ENSP00000518889.1:n.*7842_*7845del | |
| ENST00000278616.9:c.8371_8374del (ATM) | ENSP00000278616.4:p.Tyr2791GlyfsTer14 | |
| ENST00000638786.2:n.1069_1072del (ATM) | ||
| ENST00000682286.1:n.3128_3131del (ATM) | ||
| ENST00000682302.1:n.2789_2792del (ATM) | ||
| ENST00000683174.1:n.9855_9858del (ATM) | ||
| ENST00000683524.1:n.3595_3598del (ATM) | ||
| ENST00000684152.1:n.3787_3790del (ATM) | ||
| ENST00000684180.1:n.845_848del (ATM) | ||
| ENST00000684447.1:n.4864_4867del (ATM) | ||
| ENST00000527805.6:c.*3435_*3438del (ATM) | ENSP00000435747.2:n.*3435_*3438del | |
| ENST00000675595.1:c.*3506_*3509del (ATM) | ENSP00000502563.1:n.*3506_*3509del | |
| ENST00000675843.1:c.8371_8374del (ATM) MANE Select | ENSP00000501606.1:p.Tyr2791GlyfsTer14 | |
| ENST00000278616.8:c.8371_8374del (ATM) | ENSP00000278616.4:p.Tyr2791GlyfsTer14 | |
| ENST00000452508.6:c.8371_8374del (ATM) | ENSP00000388058.2:p.Tyr2791GlyfsTer14 | |
| ENST00000524755.5:c.227-8034_227-8031del (C11orf65) | ||
| ENST00000524792.5:n.4586_4589del (ATM) | ||
| ENST00000525729.5:c.641-34255_641-34252del (C11orf65) | ENSP00000433395.1:n.641-34255_641-34252de... | |
| ENST00000526725.1:n.272-2962_272-2959del (C11orf65) | ||
| ENST00000527531.5:c.*1197-8034_*1197-8031del (C11orf65) | ENSP00000431706.1:n.*1197-8034_*1197-8031... | |
| ENST00000615746.4:c.*1197-8034_*1197-8031del (C11orf65) | ENSP00000483537.1:n.*1197-8034_*1197-8031... | |
| NM_000051.3:c.8371_8374del , LRG_135t1:c.8371_8374del (ATM) | NP_000042.3:p.Tyr2791GlyfsTer14 | |
| XM_005271414.3:c.788-8034_788-8031del (C11orf65) | XP_005271471.1:n.788-8034_788-8031del | |
| XM_005271415.3:c.732-8034_732-8031del (C11orf65) | XP_005271472.1:n.732-8034_732-8031del | |
| XM_005271561.3:c.8371_8374del (ATM) | XP_005271618.2:p.Tyr2791GlyfsTer14 | |
| XM_005271562.3:c.8371_8374del (ATM) | XP_005271619.2:p.Tyr2791GlyfsTer14 | |
| XM_006718843.2:c.8371_8374del (ATM) | XP_006718906.1:p.Tyr2791GlyfsTer14 | |
| XM_006718845.1:c.4327_4330del (ATM) | XP_006718908.1:p.Tyr1443GlyfsTer14 | |
| XM_011542640.1:c.788-2962_788-2959del (C11orf65) | XP_011540942.1:n.788-2962_788-2959del | |
| XM_011542643.1:c.732-2962_732-2959del (C11orf65) | XP_011540945.1:n.732-2962_732-2959del | |
| XM_011542840.1:c.8371_8374del (ATM) | XP_011541142.1:p.Tyr2791GlyfsTer14 | |
| XM_011542841.1:c.8371_8374del (ATM) | XP_011541143.1:p.Tyr2791GlyfsTer14 | |
| XM_011542842.1:c.8206_8209del (ATM) | XP_011541144.1:p.Tyr2736GlyfsTer14 | |
| XM_011542843.1:c.8371_8374del (ATM) | XP_011541145.1:p.Tyr2791GlyfsTer14 | |
| XM_011542844.1:c.7327_7330del (ATM) | XP_011541146.1:p.Tyr2443GlyfsTer14 | |
| XM_011542845.1:c.7063_7066del (ATM) | XP_011541147.1:p.Tyr2355GlyfsTer14 | |
| XM_011542847.1:c.3442_3445del (ATM) | XP_011541149.1:p.Tyr1148GlyfsTer14 | |
| NM_001330368.1:c.641-34255_641-34252del (C11orf65) | NP_001317297.1:n.641-34255_641-34252del | |
| NM_001351110.1:c.695-8034_695-8031del (C11orf65) | NP_001338039.1:n.695-8034_695-8031del | |
| NM_001351834.1:c.8371_8374del (ATM) | NP_001338763.1:p.Tyr2791GlyfsTer14 | |
| NR_147053.2:n.2302-8034_2302-8031del (C11orf65) | ||
| XM_005271414.4:c.788-8034_788-8031del (C11orf65) | XP_005271471.1:n.788-8034_788-8031del | |
| XM_005271415.4:c.732-8034_732-8031del (C11orf65) | XP_005271472.1:n.732-8034_732-8031del | |
| XM_005271562.5:c.8371_8374del (ATM) | XP_005271619.2:p.Tyr2791GlyfsTer14 | |
| XM_006718843.4:c.8371_8374del (ATM) | XP_006718906.1:p.Tyr2791GlyfsTer14 | |
| XM_006718845.2:c.4327_4330del (ATM) | XP_006718908.1:p.Tyr1443GlyfsTer14 | |
| XM_011542640.2:c.788-2962_788-2959del (C11orf65) | XP_011540942.1:n.788-2962_788-2959del | |
| XM_011542643.2:c.732-2962_732-2959del (C11orf65) | XP_011540945.1:n.732-2962_732-2959del | |
| XM_011542840.3:c.8371_8374del (ATM) | XP_011541142.1:p.Tyr2791GlyfsTer14 | |
| XM_011542842.3:c.8206_8209del (ATM) | XP_011541144.1:p.Tyr2736GlyfsTer14 | |
| XM_011542843.2:c.8371_8374del (ATM) | XP_011541145.1:p.Tyr2791GlyfsTer14 | |
| XM_011542844.3:c.7327_7330del (ATM) | XP_011541146.1:p.Tyr2443GlyfsTer14 | |
| XM_011542845.2:c.7063_7066del (ATM) | XP_011541147.1:p.Tyr2355GlyfsTer14 | |
| XM_017017247.1:c.904-2962_904-2959del (C11orf65) | XP_016872736.1:n.904-2962_904-2959del | |
| XM_017017789.2:c.8371_8374del (ATM) | XP_016873278.1:p.Tyr2791GlyfsTer14 | |
| XM_017017790.2:c.8371_8374del (ATM) | XP_016873279.1:p.Tyr2791GlyfsTer14 | |
| NM_001330368.2:c.641-34255_641-34252del (C11orf65) | NP_001317297.1:n.641-34255_641-34252del | |
| NM_001351110.2:c.695-8034_695-8031del (C11orf65) | NP_001338039.1:n.695-8034_695-8031del | |
| NM_001351834.2:c.8371_8374del (ATM) | NP_001338763.1:p.Tyr2791GlyfsTer14 | |
| NM_000051.4:c.8371_8374del (ATM) MANE Select | NP_000042.3:p.Tyr2791GlyfsTer14 | |
| NR_147053.3:n.2300-8034_2300-8031del (C11orf65) |