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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108331913_108331914delinsAC , CM000673.2:g.108331913_108331914delinsAC | GRCh38 |
| NC_000011.9:g.108202640_108202641delinsAC , CM000673.1:g.108202640_108202641delinsAC | GRCh37 |
| NC_000011.8:g.107707850_107707851delinsAC | NCBI36 |
| NG_009830.1:g.114082_114083delinsAC , LRG_135:g.114082_114083delinsAC | |
| NG_054724.1:g.142919_142920delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7664_7665delinsAC (ATM) | ENSP00000388058.2:p.His2555= | |
| ENST00000713593.1:c.*7135_*7136delinsAC (ATM) | ENSP00000518889.1:n.*7135_*7136delinsAC | |
| ENST00000278616.9:c.7664_7665delinsAC (ATM) | ENSP00000278616.4:p.His2555= | |
| ENST00000525056.2:n.2083_2084delinsAC (ATM) | ||
| ENST00000525537.3:n.621_622delinsAC (ATM) | ||
| ENST00000638786.2:n.501_502delinsAC (ATM) | ||
| ENST00000682286.1:n.2421_2422delinsAC (ATM) | ||
| ENST00000682302.1:n.2082_2083delinsAC (ATM) | ||
| ENST00000683174.1:n.9148_9149delinsAC (ATM) | ||
| ENST00000683524.1:n.2888_2889delinsAC (ATM) | ||
| ENST00000684152.1:n.3343+356_3343+357delinsAC (ATM) | ||
| ENST00000684447.1:n.2448_2449delinsAC (ATM) | ||
| ENST00000527805.6:c.*2728_*2729delinsAC (ATM) | ENSP00000435747.2:n.*2728_*2729delinsAC | |
| ENST00000675595.1:c.*2799_*2800delinsAC (ATM) | ENSP00000502563.1:n.*2799_*2800delinsAC | |
| ENST00000675843.1:c.7664_7665delinsAC (ATM) MANE Select | ENSP00000501606.1:p.His2555= | |
| ENST00000278616.8:c.7664_7665delinsAC (ATM) | ENSP00000278616.4:p.His2555= | |
| ENST00000452508.6:c.7664_7665delinsAC (ATM) | ENSP00000388058.2:p.His2555= | |
| ENST00000524755.5:c.300-347_300-346delinsGT (C11orf65) | ||
| ENST00000524792.5:n.3879_3880delinsAC (ATM) | ||
| ENST00000525729.5:c.641-22843_641-22842delinsGT (C11orf65) | ENSP00000433395.1:n.641-22843_641-22842de... | |
| ENST00000527531.5:c.*1270-347_*1270-346delinsGT (C11orf65) | ENSP00000431706.1:n.*1270-347_*1270-346de... | |
| ENST00000533690.5:n.3068_3069delinsAC (ATM) | ||
| ENST00000615746.4:c.*1270-347_*1270-346delinsGT (C11orf65) | ENSP00000483537.1:n.*1270-347_*1270-346de... | |
| NM_000051.3:c.7664_7665delinsAC , LRG_135t1:c.7664_7665delinsAC (ATM) | NP_000042.3:p.His2555= | |
| XM_005271414.3:c.*39-347_*39-346delinsGT (C11orf65) | XP_005271471.1:n.*39-347_*39-346delinsGT | |
| XM_005271415.3:c.805-347_805-346delinsGT (C11orf65) | XP_005271472.1:n.805-347_805-346delinsGT | |
| XM_005271561.3:c.7664_7665delinsAC (ATM) | XP_005271618.2:p.His2555= | |
| XM_005271562.3:c.7664_7665delinsAC (ATM) | XP_005271619.2:p.His2555= | |
| XM_006718843.2:c.7664_7665delinsAC (ATM) | XP_006718906.1:p.His2555= | |
| XM_006718845.1:c.3620_3621delinsAC (ATM) | XP_006718908.1:p.His1207= | |
| XM_011542840.1:c.7664_7665delinsAC (ATM) | XP_011541142.1:p.His2555= | |
| XM_011542841.1:c.7664_7665delinsAC (ATM) | XP_011541143.1:p.His2555= | |
| XM_011542842.1:c.7499_7500delinsAC (ATM) | XP_011541144.1:p.His2500= | |
| XM_011542843.1:c.7664_7665delinsAC (ATM) | XP_011541145.1:p.His2555= | |
| XM_011542844.1:c.6620_6621delinsAC (ATM) | XP_011541146.1:p.His2207= | |
| XM_011542845.1:c.6356_6357delinsAC (ATM) | XP_011541147.1:p.His2119= | |
| XM_011542847.1:c.2735_2736delinsAC (ATM) | XP_011541149.1:p.His912= | |
| NM_001330368.1:c.641-22843_641-22842delinsGT (C11orf65) | NP_001317297.1:n.641-22843_641-22842delin... | |
| NM_001351110.1:c.*38+3306_*38+3307delinsGT (C11orf65) | NP_001338039.1:n.*38+3306_*38+3307delinsG... | |
| NM_001351834.1:c.7664_7665delinsAC (ATM) | NP_001338763.1:p.His2555= | |
| NR_147053.2:n.2375-347_2375-346delinsGT (C11orf65) | ||
| XM_005271414.4:c.*39-347_*39-346delinsGT (C11orf65) | XP_005271471.1:n.*39-347_*39-346delinsGT | |
| XM_005271415.4:c.805-347_805-346delinsGT (C11orf65) | XP_005271472.1:n.805-347_805-346delinsGT | |
| XM_005271562.5:c.7664_7665delinsAC (ATM) | XP_005271619.2:p.His2555= | |
| XM_006718843.4:c.7664_7665delinsAC (ATM) | XP_006718906.1:p.His2555= | |
| XM_006718845.2:c.3620_3621delinsAC (ATM) | XP_006718908.1:p.His1207= | |
| XM_011542840.3:c.7664_7665delinsAC (ATM) | XP_011541142.1:p.His2555= | |
| XM_011542842.3:c.7499_7500delinsAC (ATM) | XP_011541144.1:p.His2500= | |
| XM_011542843.2:c.7664_7665delinsAC (ATM) | XP_011541145.1:p.His2555= | |
| XM_011542844.3:c.6620_6621delinsAC (ATM) | XP_011541146.1:p.His2207= | |
| XM_011542845.2:c.6356_6357delinsAC (ATM) | XP_011541147.1:p.His2119= | |
| XM_017017789.2:c.7664_7665delinsAC (ATM) | XP_016873278.1:p.His2555= | |
| XM_017017790.2:c.7664_7665delinsAC (ATM) | XP_016873279.1:p.His2555= | |
| NM_001330368.2:c.641-22843_641-22842delinsGT (C11orf65) | NP_001317297.1:n.641-22843_641-22842delin... | |
| NM_001351110.2:c.*38+3306_*38+3307delinsGT (C11orf65) | NP_001338039.1:n.*38+3306_*38+3307delinsG... | |
| NM_001351834.2:c.7664_7665delinsAC (ATM) | NP_001338763.1:p.His2555= | |
| NM_000051.4:c.7664_7665delinsAC (ATM) MANE Select | NP_000042.3:p.His2555= | |
| NR_147053.3:n.2373-347_2373-346delinsGT (C11orf65) |