UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
11-108353880-GGTAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108353883_108353886del , CM000673.2:g.108353883_108353886del | GRCh38 |
| NC_000011.9:g.108224610_108224613del , CM000673.1:g.108224610_108224613del | GRCh37 |
| NC_000011.8:g.107729820_107729823del | NCBI36 |
| NG_009830.1:g.136052_136055del , LRG_135:g.136052_136055del | |
| NG_054724.1:g.120949_120952del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.8786+3_8786+6del (ATM) | ENSP00000388058.2:n.8786+3_8786+6del | |
| ENST00000713593.1:c.*8257+3_*8257+6del (ATM) | ENSP00000518889.1:n.*8257+3_*8257+6del | |
| ENST00000278616.9:c.8786+3_8786+6del (ATM) | ENSP00000278616.4:n.8786+3_8786+6del | |
| ENST00000638786.2:n.1484+3_1484+6del (ATM) | ||
| ENST00000682286.1:n.3543+3_3543+6del (ATM) | ||
| ENST00000682302.1:n.3204+3_3204+6del (ATM) | ||
| ENST00000683174.1:n.10270+3_10270+6del (ATM) | ||
| ENST00000683524.1:n.4010+3_4010+6del (ATM) | ||
| ENST00000684152.1:n.4202+3_4202+6del (ATM) | ||
| ENST00000684180.1:n.1260+3_1260+6del (ATM) | ||
| ENST00000684447.1:n.5279+3_5279+6del (ATM) | ||
| ENST00000527805.6:c.*3850+3_*3850+6del (ATM) | ENSP00000435747.2:n.*3850+3_*3850+6del | |
| ENST00000675595.1:c.*3921+3_*3921+6del (ATM) | ENSP00000502563.1:n.*3921+3_*3921+6del | |
| ENST00000675843.1:c.8786+3_8786+6del (ATM) MANE Select | ENSP00000501606.1:n.8786+3_8786+6del | |
| ENST00000278616.8:c.8786+3_8786+6del (ATM) | ENSP00000278616.4:n.8786+3_8786+6del | |
| ENST00000452508.6:c.8786+3_8786+6del (ATM) | ENSP00000388058.2:n.8786+3_8786+6del | |
| ENST00000524755.5:c.227-18592_227-18589del (C11orf65) | ||
| ENST00000524792.5:n.5001+3_5001+6del (ATM) | ||
| ENST00000525178.5:n.274+3_274+6del (ATM) | ||
| ENST00000525729.5:c.640+32036_640+32039del (C11orf65) | ENSP00000433395.1:n.640+32036_640+32039de... | |
| ENST00000526725.1:n.272-13520_272-13517del (C11orf65) | ||
| ENST00000527181.1:n.125+3_125+6del (ATM) | ||
| ENST00000527531.5:c.*1196+1031_*1196+1034del (C11orf65) | ENSP00000431706.1:n.*1196+1031_*1196+1034... | |
| ENST00000615746.4:c.*1196+1031_*1196+1034del (C11orf65) | ENSP00000483537.1:n.*1196+1031_*1196+1034... | |
| NM_000051.3:c.8786+3_8786+6del , LRG_135t1:c.8786+3_8786+6del (ATM) | NP_000042.3:n.8786+3_8786+6del | |
| XM_005271414.3:c.788-18592_788-18589del (C11orf65) | XP_005271471.1:n.788-18592_788-18589del | |
| XM_005271415.3:c.732-18592_732-18589del (C11orf65) | XP_005271472.1:n.732-18592_732-18589del | |
| XM_005271561.3:c.8786+3_8786+6del (ATM) | XP_005271618.2:n.8786+3_8786+6del | |
| XM_005271562.3:c.8786+3_8786+6del (ATM) | XP_005271619.2:n.8786+3_8786+6del | |
| XM_006718843.2:c.8786+3_8786+6del (ATM) | XP_006718906.1:n.8786+3_8786+6del | |
| XM_006718845.1:c.4742+3_4742+6del (ATM) | XP_006718908.1:n.4742+3_4742+6del | |
| XM_011542640.1:c.788-13520_788-13517del (C11orf65) | XP_011540942.1:n.788-13520_788-13517del | |
| XM_011542642.1:c.732-4811_732-4808del (C11orf65) | XP_011540944.1:n.732-4811_732-4808del | |
| XM_011542643.1:c.732-13520_732-13517del (C11orf65) | XP_011540945.1:n.732-13520_732-13517del | |
| XM_011542840.1:c.8786+3_8786+6del (ATM) | XP_011541142.1:n.8786+3_8786+6del | |
| XM_011542841.1:c.8786+3_8786+6del (ATM) | XP_011541143.1:n.8786+3_8786+6del | |
| XM_011542842.1:c.8621+3_8621+6del (ATM) | XP_011541144.1:n.8621+3_8621+6del | |
| XM_011542844.1:c.7742+3_7742+6del (ATM) | XP_011541146.1:n.7742+3_7742+6del | |
| XM_011542845.1:c.7478+3_7478+6del (ATM) | XP_011541147.1:n.7478+3_7478+6del | |
| XM_011542847.1:c.3857+3_3857+6del (ATM) | XP_011541149.1:n.3857+3_3857+6del | |
| NM_001330368.1:c.640+32036_640+32039del (C11orf65) | NP_001317297.1:n.640+32036_640+32039del | |
| NM_001351110.1:c.695-18592_695-18589del (C11orf65) | NP_001338039.1:n.695-18592_695-18589del | |
| NM_001351834.1:c.8786+3_8786+6del (ATM) | NP_001338763.1:n.8786+3_8786+6del | |
| NR_147053.2:n.2301+1031_2301+1034del (C11orf65) | ||
| XM_005271414.4:c.788-18592_788-18589del (C11orf65) | XP_005271471.1:n.788-18592_788-18589del | |
| XM_005271415.4:c.732-18592_732-18589del (C11orf65) | XP_005271472.1:n.732-18592_732-18589del | |
| XM_005271562.5:c.8786+3_8786+6del (ATM) | XP_005271619.2:n.8786+3_8786+6del | |
| XM_006718843.4:c.8786+3_8786+6del (ATM) | XP_006718906.1:n.8786+3_8786+6del | |
| XM_006718845.2:c.4742+3_4742+6del (ATM) | XP_006718908.1:n.4742+3_4742+6del | |
| XM_011542640.2:c.788-13520_788-13517del (C11orf65) | XP_011540942.1:n.788-13520_788-13517del | |
| XM_011542643.2:c.732-13520_732-13517del (C11orf65) | XP_011540945.1:n.732-13520_732-13517del | |
| XM_011542840.3:c.8786+3_8786+6del (ATM) | XP_011541142.1:n.8786+3_8786+6del | |
| XM_011542842.3:c.8621+3_8621+6del (ATM) | XP_011541144.1:n.8621+3_8621+6del | |
| XM_011542844.3:c.7742+3_7742+6del (ATM) | XP_011541146.1:n.7742+3_7742+6del | |
| XM_011542845.2:c.7478+3_7478+6del (ATM) | XP_011541147.1:n.7478+3_7478+6del | |
| XM_017017247.1:c.904-13520_904-13517del (C11orf65) | XP_016872736.1:n.904-13520_904-13517del | |
| XM_017017789.2:c.8786+3_8786+6del (ATM) | XP_016873278.1:n.8786+3_8786+6del | |
| XM_017017790.2:c.8786+3_8786+6del (ATM) | XP_016873279.1:n.8786+3_8786+6del | |
| NM_001330368.2:c.640+32036_640+32039del (C11orf65) | NP_001317297.1:n.640+32036_640+32039del | |
| NM_001351110.2:c.695-18592_695-18589del (C11orf65) | NP_001338039.1:n.695-18592_695-18589del | |
| NM_001351834.2:c.8786+3_8786+6del (ATM) | NP_001338763.1:n.8786+3_8786+6del | |
| NM_000051.4:c.8786+3_8786+6del (ATM) MANE Select | NP_000042.3:n.8786+3_8786+6del | |
| NR_147053.3:n.2299+1031_2299+1034del (C11orf65) |