Linked Data
dbSNP Id:
rs1555143031
MyVariant Identifiers:
chr11:g.108224794_108224795insAA (hg19)
chr11:g.108354067_108354068insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108354067_108354068insAA , CM000673.2:g.108354067_108354068insAA | GRCh38 |
| NC_000011.9:g.108224794_108224795insAA , CM000673.1:g.108224794_108224795insAA | GRCh37 |
| NC_000011.8:g.107730004_107730005insAA | NCBI36 |
| NG_009830.1:g.136236_136237insAA , LRG_135:g.136236_136237insAA | |
| NG_054724.1:g.120766_120767insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8786+187_8786+188insAA (ATM) | ENSP00000388058.2:n.8786+187_8786+188insAA | |
| ENST00000713593.1:c.*8257+187_*8257+188insAA (ATM) | ENSP00000518889.1:n.*8257+187_*8257+188insAA | |
| ENST00000278616.9:c.8786+187_8786+188insAA (ATM) | ENSP00000278616.4:n.8786+187_8786+188insAA | |
| ENST00000638786.2:n.1484+187_1484+188insAA (ATM) | ||
| ENST00000682286.1:n.3543+187_3543+188insAA (ATM) | ||
| ENST00000682302.1:n.3204+187_3204+188insAA (ATM) | ||
| ENST00000683174.1:n.10270+187_10270+188insAA (ATM) | ||
| ENST00000683524.1:n.4010+187_4010+188insAA (ATM) | ||
| ENST00000684152.1:n.4202+187_4202+188insAA (ATM) | ||
| ENST00000684180.1:n.1260+187_1260+188insAA (ATM) | ||
| ENST00000684447.1:n.5279+187_5279+188insAA (ATM) | ||
| ENST00000527805.6:c.*3850+187_*3850+188insAA (ATM) | ENSP00000435747.2:n.*3850+187_*3850+188insAA | |
| ENST00000675595.1:c.*3921+187_*3921+188insAA (ATM) | ENSP00000502563.1:n.*3921+187_*3921+188insAA | |
| ENST00000675843.1:c.8786+187_8786+188insAA (ATM) MANE Select | ENSP00000501606.1:n.8786+187_8786+188insAA | |
| ENST00000278616.8:c.8786+187_8786+188insAA (ATM) | ENSP00000278616.4:n.8786+187_8786+188insAA | |
| ENST00000452508.6:c.8786+187_8786+188insAA (ATM) | ENSP00000388058.2:n.8786+187_8786+188insAA | |
| ENST00000524755.5:c.227-18775_227-18774insTT (C11orf65) | ||
| ENST00000524792.5:n.5001+187_5001+188insAA (ATM) | ||
| ENST00000525178.5:n.274+187_274+188insAA (ATM) | ||
| ENST00000525729.5:c.640+31853_640+31854insTT (C11orf65) | ENSP00000433395.1:n.640+31853_640+31854insTT | |
| ENST00000526725.1:n.272-13703_272-13702insTT (C11orf65) | ||
| ENST00000527181.1:n.125+187_125+188insAA (ATM) | ||
| ENST00000527531.5:c.*1196+848_*1196+849insTT (C11orf65) | ENSP00000431706.1:n.*1196+848_*1196+849insTT | |
| ENST00000615746.4:c.*1196+848_*1196+849insTT (C11orf65) | ENSP00000483537.1:n.*1196+848_*1196+849insTT | |
| NM_000051.3:c.8786+187_8786+188insAA , LRG_135t1:c.8786+187_8786+188insAA (ATM) | NP_000042.3:n.8786+187_8786+188insAA | |
| XM_005271414.3:c.788-18775_788-18774insTT (C11orf65) | XP_005271471.1:n.788-18775_788-18774insTT | |
| XM_005271415.3:c.732-18775_732-18774insTT (C11orf65) | XP_005271472.1:n.732-18775_732-18774insTT | |
| XM_005271561.3:c.8786+187_8786+188insAA (ATM) | XP_005271618.2:n.8786+187_8786+188insAA | |
| XM_005271562.3:c.8786+187_8786+188insAA (ATM) | XP_005271619.2:n.8786+187_8786+188insAA | |
| XM_006718843.2:c.8786+187_8786+188insAA (ATM) | XP_006718906.1:n.8786+187_8786+188insAA | |
| XM_006718845.1:c.4742+187_4742+188insAA (ATM) | XP_006718908.1:n.4742+187_4742+188insAA | |
| XM_011542640.1:c.788-13703_788-13702insTT (C11orf65) | XP_011540942.1:n.788-13703_788-13702insTT | |
| XM_011542642.1:c.732-4994_732-4993insTT (C11orf65) | XP_011540944.1:n.732-4994_732-4993insTT | |
| XM_011542643.1:c.732-13703_732-13702insTT (C11orf65) | XP_011540945.1:n.732-13703_732-13702insTT | |
| XM_011542840.1:c.8786+187_8786+188insAA (ATM) | XP_011541142.1:n.8786+187_8786+188insAA | |
| XM_011542841.1:c.8786+187_8786+188insAA (ATM) | XP_011541143.1:n.8786+187_8786+188insAA | |
| XM_011542842.1:c.8621+187_8621+188insAA (ATM) | XP_011541144.1:n.8621+187_8621+188insAA | |
| XM_011542844.1:c.7742+187_7742+188insAA (ATM) | XP_011541146.1:n.7742+187_7742+188insAA | |
| XM_011542845.1:c.7478+187_7478+188insAA (ATM) | XP_011541147.1:n.7478+187_7478+188insAA | |
| XM_011542847.1:c.3857+187_3857+188insAA (ATM) | XP_011541149.1:n.3857+187_3857+188insAA | |
| NM_001330368.1:c.640+31853_640+31854insTT (C11orf65) | NP_001317297.1:n.640+31853_640+31854insTT | |
| NM_001351110.1:c.695-18775_695-18774insTT (C11orf65) | NP_001338039.1:n.695-18775_695-18774insTT | |
| NM_001351834.1:c.8786+187_8786+188insAA (ATM) | NP_001338763.1:n.8786+187_8786+188insAA | |
| NR_147053.2:n.2301+848_2301+849insTT (C11orf65) | ||
| XM_005271414.4:c.788-18775_788-18774insTT (C11orf65) | XP_005271471.1:n.788-18775_788-18774insTT | |
| XM_005271415.4:c.732-18775_732-18774insTT (C11orf65) | XP_005271472.1:n.732-18775_732-18774insTT | |
| XM_005271562.5:c.8786+187_8786+188insAA (ATM) | XP_005271619.2:n.8786+187_8786+188insAA | |
| XM_006718843.4:c.8786+187_8786+188insAA (ATM) | XP_006718906.1:n.8786+187_8786+188insAA | |
| XM_006718845.2:c.4742+187_4742+188insAA (ATM) | XP_006718908.1:n.4742+187_4742+188insAA | |
| XM_011542640.2:c.788-13703_788-13702insTT (C11orf65) | XP_011540942.1:n.788-13703_788-13702insTT | |
| XM_011542643.2:c.732-13703_732-13702insTT (C11orf65) | XP_011540945.1:n.732-13703_732-13702insTT | |
| XM_011542840.3:c.8786+187_8786+188insAA (ATM) | XP_011541142.1:n.8786+187_8786+188insAA | |
| XM_011542842.3:c.8621+187_8621+188insAA (ATM) | XP_011541144.1:n.8621+187_8621+188insAA | |
| XM_011542844.3:c.7742+187_7742+188insAA (ATM) | XP_011541146.1:n.7742+187_7742+188insAA | |
| XM_011542845.2:c.7478+187_7478+188insAA (ATM) | XP_011541147.1:n.7478+187_7478+188insAA | |
| XM_017017247.1:c.904-13703_904-13702insTT (C11orf65) | XP_016872736.1:n.904-13703_904-13702insTT | |
| XM_017017789.2:c.8786+187_8786+188insAA (ATM) | XP_016873278.1:n.8786+187_8786+188insAA | |
| XM_017017790.2:c.8786+187_8786+188insAA (ATM) | XP_016873279.1:n.8786+187_8786+188insAA | |
| NM_001330368.2:c.640+31853_640+31854insTT (C11orf65) | NP_001317297.1:n.640+31853_640+31854insTT | |
| NM_001351110.2:c.695-18775_695-18774insTT (C11orf65) | NP_001338039.1:n.695-18775_695-18774insTT | |
| NM_001351834.2:c.8786+187_8786+188insAA (ATM) | NP_001338763.1:n.8786+187_8786+188insAA | |
| NM_000051.4:c.8786+187_8786+188insAA (ATM) MANE Select | NP_000042.3:n.8786+187_8786+188insAA | |
| NR_147053.3:n.2299+848_2299+849insTT (C11orf65) |