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.108331922_108331935delinsTTATTATACTGGCC , CM000673.2:g.108331922_108331935delinsTTATTATACTGGCC | GRCh38 |
| NC_000011.9:g.108202649_108202662delinsTTATTATACTGGCC , CM000673.1:g.108202649_108202662delinsTTATTATACTGGCC | GRCh37 |
| NC_000011.8:g.107707859_107707872delinsTTATTATACTGGCC | NCBI36 |
| NG_009830.1:g.114091_114104delinsTTATTATACTGGCC , LRG_135:g.114091_114104delinsTTATTATACTGGCC | |
| NG_054724.1:g.142898_142911delinsGGCCAGTATAATAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7673_7686delinsTTATTATACTGGCC (ATM) | ENSP00000388058.2:p.Phe2558= | |
| ENST00000713593.1:c.*7144_*7157delinsTTATTATACTGGCC (ATM) | ENSP00000518889.1:n.*7144_*7157delinsTTAT... | |
| ENST00000278616.9:c.7673_7686delinsTTATTATACTGGCC (ATM) | ENSP00000278616.4:p.Phe2558= | |
| ENST00000525056.2:n.2092_2105delinsTTATTATACTGGCC (ATM) | ||
| ENST00000525537.3:n.630_643delinsTTATTATACTGGCC (ATM) | ||
| ENST00000638786.2:n.510_523delinsTTATTATACTGGCC (ATM) | ||
| ENST00000682286.1:n.2430_2443delinsTTATTATACTGGCC (ATM) | ||
| ENST00000682302.1:n.2091_2104delinsTTATTATACTGGCC (ATM) | ||
| ENST00000683174.1:n.9157_9170delinsTTATTATACTGGCC (ATM) | ||
| ENST00000683524.1:n.2897_2910delinsTTATTATACTGGCC (ATM) | ||
| ENST00000684152.1:n.3343+365_3343+378delinsTTATTATACTGGCC (ATM) | ||
| ENST00000684447.1:n.2457_2470delinsTTATTATACTGGCC (ATM) | ||
| ENST00000527805.6:c.*2737_*2750delinsTTATTATACTGGCC (ATM) | ENSP00000435747.2:n.*2737_*2750delinsTTAT... | |
| ENST00000675595.1:c.*2808_*2821delinsTTATTATACTGGCC (ATM) | ENSP00000502563.1:n.*2808_*2821delinsTTAT... | |
| ENST00000675843.1:c.7673_7686delinsTTATTATACTGGCC (ATM) MANE Select | ENSP00000501606.1:p.Phe2558= | |
| ENST00000278616.8:c.7673_7686delinsTTATTATACTGGCC (ATM) | ENSP00000278616.4:p.Phe2558= | |
| ENST00000452508.6:c.7673_7686delinsTTATTATACTGGCC (ATM) | ENSP00000388058.2:p.Phe2558= | |
| ENST00000524755.5:c.300-368_300-355delinsGGCCAGTATAATAA (C11orf65) | ||
| ENST00000524792.5:n.3888_3901delinsTTATTATACTGGCC (ATM) | ||
| ENST00000525729.5:c.641-22864_641-22851delinsGGCCAGTATAATAA (C11orf65) | ENSP00000433395.1:n.641-22864_641-22851de... | |
| ENST00000527531.5:c.*1270-368_*1270-355delinsGGCCAGTATAATAA (C11orf65) | ENSP00000431706.1:n.*1270-368_*1270-355de... | |
| ENST00000533690.5:n.3077_3090delinsTTATTATACTGGCC (ATM) | ||
| ENST00000615746.4:c.*1270-368_*1270-355delinsGGCCAGTATAATAA (C11orf65) | ENSP00000483537.1:n.*1270-368_*1270-355de... | |
| NM_000051.3:c.7673_7686delinsTTATTATACTGGCC , LRG_135t1:c.7673_7686delinsTTATTATACTGGCC (ATM) | NP_000042.3:p.Phe2558= | |
| XM_005271414.3:c.*39-368_*39-355delinsGGCCAGTATAATAA (C11orf65) | XP_005271471.1:n.*39-368_*39-355delinsGGC... | |
| XM_005271415.3:c.805-368_805-355delinsGGCCAGTATAATAA (C11orf65) | XP_005271472.1:n.805-368_805-355delinsGGC... | |
| XM_005271561.3:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_005271618.2:p.Phe2558= | |
| XM_005271562.3:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_005271619.2:p.Phe2558= | |
| XM_006718843.2:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_006718906.1:p.Phe2558= | |
| XM_006718845.1:c.3629_3642delinsTTATTATACTGGCC (ATM) | XP_006718908.1:p.Phe1210= | |
| XM_011542840.1:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_011541142.1:p.Phe2558= | |
| XM_011542841.1:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_011541143.1:p.Phe2558= | |
| XM_011542842.1:c.7508_7521delinsTTATTATACTGGCC (ATM) | XP_011541144.1:p.Phe2503= | |
| XM_011542843.1:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_011541145.1:p.Phe2558= | |
| XM_011542844.1:c.6629_6642delinsTTATTATACTGGCC (ATM) | XP_011541146.1:p.Phe2210= | |
| XM_011542845.1:c.6365_6378delinsTTATTATACTGGCC (ATM) | XP_011541147.1:p.Phe2122= | |
| XM_011542847.1:c.2744_2757delinsTTATTATACTGGCC (ATM) | XP_011541149.1:p.Phe915= | |
| NM_001330368.1:c.641-22864_641-22851delinsGGCCAGTATAATAA (C11orf65) | NP_001317297.1:n.641-22864_641-22851delin... | |
| NM_001351110.1:c.*38+3285_*38+3298delinsGGCCAGTATAATAA (C11orf65) | NP_001338039.1:n.*38+3285_*38+3298delinsG... | |
| NM_001351834.1:c.7673_7686delinsTTATTATACTGGCC (ATM) | NP_001338763.1:p.Phe2558= | |
| NR_147053.2:n.2375-368_2375-355delinsGGCCAGTATAATAA (C11orf65) | ||
| XM_005271414.4:c.*39-368_*39-355delinsGGCCAGTATAATAA (C11orf65) | XP_005271471.1:n.*39-368_*39-355delinsGGC... | |
| XM_005271415.4:c.805-368_805-355delinsGGCCAGTATAATAA (C11orf65) | XP_005271472.1:n.805-368_805-355delinsGGC... | |
| XM_005271562.5:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_005271619.2:p.Phe2558= | |
| XM_006718843.4:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_006718906.1:p.Phe2558= | |
| XM_006718845.2:c.3629_3642delinsTTATTATACTGGCC (ATM) | XP_006718908.1:p.Phe1210= | |
| XM_011542840.3:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_011541142.1:p.Phe2558= | |
| XM_011542842.3:c.7508_7521delinsTTATTATACTGGCC (ATM) | XP_011541144.1:p.Phe2503= | |
| XM_011542843.2:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_011541145.1:p.Phe2558= | |
| XM_011542844.3:c.6629_6642delinsTTATTATACTGGCC (ATM) | XP_011541146.1:p.Phe2210= | |
| XM_011542845.2:c.6365_6378delinsTTATTATACTGGCC (ATM) | XP_011541147.1:p.Phe2122= | |
| XM_017017789.2:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_016873278.1:p.Phe2558= | |
| XM_017017790.2:c.7673_7686delinsTTATTATACTGGCC (ATM) | XP_016873279.1:p.Phe2558= | |
| NM_001330368.2:c.641-22864_641-22851delinsGGCCAGTATAATAA (C11orf65) | NP_001317297.1:n.641-22864_641-22851delin... | |
| NM_001351110.2:c.*38+3285_*38+3298delinsGGCCAGTATAATAA (C11orf65) | NP_001338039.1:n.*38+3285_*38+3298delinsG... | |
| NM_001351834.2:c.7673_7686delinsTTATTATACTGGCC (ATM) | NP_001338763.1:p.Phe2558= | |
| NM_000051.4:c.7673_7686delinsTTATTATACTGGCC (ATM) MANE Select | NP_000042.3:p.Phe2558= | |
| NR_147053.3:n.2373-368_2373-355delinsGGCCAGTATAATAA (C11orf65) |