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.108333967_108333968delinsAG , CM000673.2:g.108333967_108333968delinsAG | GRCh38 |
| NC_000011.9:g.108204694_108204695delinsAG , CM000673.1:g.108204694_108204695delinsAG | GRCh37 |
| NC_000011.8:g.107709904_107709905delinsAG | NCBI36 |
| NG_009830.1:g.116136_116137delinsAG , LRG_135:g.116136_116137delinsAG | |
| NG_054724.1:g.140865_140866delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.8009_8010delinsAG (ATM) | ENSP00000388058.2:p.Lys2670= | |
| ENST00000713593.1:c.*7480_*7481delinsAG (ATM) | ENSP00000518889.1:n.*7480_*7481delinsAG | |
| ENST00000278616.9:c.8009_8010delinsAG (ATM) | ENSP00000278616.4:p.Lys2670= | |
| ENST00000525056.2:n.2428_2429delinsAG (ATM) | ||
| ENST00000638786.2:n.707_708delinsAG (ATM) | ||
| ENST00000682286.1:n.2766_2767delinsAG (ATM) | ||
| ENST00000682302.1:n.2427_2428delinsAG (ATM) | ||
| ENST00000683174.1:n.9493_9494delinsAG (ATM) | ||
| ENST00000683524.1:n.3233_3234delinsAG (ATM) | ||
| ENST00000684152.1:n.3425_3426delinsAG (ATM) | ||
| ENST00000684180.1:n.483_484delinsAG (ATM) | ||
| ENST00000684447.1:n.4502_4503delinsAG (ATM) | ||
| ENST00000527805.6:c.*3073_*3074delinsAG (ATM) | ENSP00000435747.2:n.*3073_*3074delinsAG | |
| ENST00000675595.1:c.*3144_*3145delinsAG (ATM) | ENSP00000502563.1:n.*3144_*3145delinsAG | |
| ENST00000675843.1:c.8009_8010delinsAG (ATM) MANE Select | ENSP00000501606.1:p.Lys2670= | |
| ENST00000278616.8:c.8009_8010delinsAG (ATM) | ENSP00000278616.4:p.Lys2670= | |
| ENST00000452508.6:c.8009_8010delinsAG (ATM) | ENSP00000388058.2:p.Lys2670= | |
| ENST00000524755.5:c.299+1252_299+1253delinsCT (C11orf65) | ||
| ENST00000524792.5:n.4224_4225delinsAG (ATM) | ||
| ENST00000525056.1:n.206_207delinsAG (ATM) | ||
| ENST00000525729.5:c.641-24897_641-24896delinsCT (C11orf65) | ENSP00000433395.1:n.641-24897_641-24896delinsCT | |
| ENST00000527531.5:c.*1269+1252_*1269+1253delinsCT (C11orf65) | ENSP00000431706.1:n.*1269+1252_*1269+1253delinsCT | |
| ENST00000533979.5:n.221_222delinsAG (ATM) | ||
| ENST00000615746.4:c.*1269+1252_*1269+1253delinsCT (C11orf65) | ENSP00000483537.1:n.*1269+1252_*1269+1253delinsCT | |
| NM_000051.3:c.8009_8010delinsAG , LRG_135t1:c.8009_8010delinsAG (ATM) | NP_000042.3:p.Lys2670= | |
| XM_005271414.3:c.*38+1252_*38+1253delinsCT (C11orf65) | XP_005271471.1:n.*38+1252_*38+1253delinsCT | |
| XM_005271415.3:c.804+1252_804+1253delinsCT (C11orf65) | XP_005271472.1:n.804+1252_804+1253delinsCT | |
| XM_005271561.3:c.8009_8010delinsAG (ATM) | XP_005271618.2:p.Lys2670= | |
| XM_005271562.3:c.8009_8010delinsAG (ATM) | XP_005271619.2:p.Lys2670= | |
| XM_006718843.2:c.8009_8010delinsAG (ATM) | XP_006718906.1:p.Lys2670= | |
| XM_006718845.1:c.3965_3966delinsAG (ATM) | XP_006718908.1:p.Lys1322= | |
| XM_011542840.1:c.8009_8010delinsAG (ATM) | XP_011541142.1:p.Lys2670= | |
| XM_011542841.1:c.8009_8010delinsAG (ATM) | XP_011541143.1:p.Lys2670= | |
| XM_011542842.1:c.7844_7845delinsAG (ATM) | XP_011541144.1:p.Lys2615= | |
| XM_011542843.1:c.8009_8010delinsAG (ATM) | XP_011541145.1:p.Lys2670= | |
| XM_011542844.1:c.6965_6966delinsAG (ATM) | XP_011541146.1:p.Lys2322= | |
| XM_011542845.1:c.6701_6702delinsAG (ATM) | XP_011541147.1:p.Lys2234= | |
| XM_011542847.1:c.3080_3081delinsAG (ATM) | XP_011541149.1:p.Lys1027= | |
| NM_001330368.1:c.641-24897_641-24896delinsCT (C11orf65) | NP_001317297.1:n.641-24897_641-24896delinsCT | |
| NM_001351110.1:c.*38+1252_*38+1253delinsCT (C11orf65) | NP_001338039.1:n.*38+1252_*38+1253delinsCT | |
| NM_001351834.1:c.8009_8010delinsAG (ATM) | NP_001338763.1:p.Lys2670= | |
| NR_147053.2:n.2374+1252_2374+1253delinsCT (C11orf65) | ||
| XM_005271414.4:c.*38+1252_*38+1253delinsCT (C11orf65) | XP_005271471.1:n.*38+1252_*38+1253delinsCT | |
| XM_005271415.4:c.804+1252_804+1253delinsCT (C11orf65) | XP_005271472.1:n.804+1252_804+1253delinsCT | |
| XM_005271562.5:c.8009_8010delinsAG (ATM) | XP_005271619.2:p.Lys2670= | |
| XM_006718843.4:c.8009_8010delinsAG (ATM) | XP_006718906.1:p.Lys2670= | |
| XM_006718845.2:c.3965_3966delinsAG (ATM) | XP_006718908.1:p.Lys1322= | |
| XM_011542840.3:c.8009_8010delinsAG (ATM) | XP_011541142.1:p.Lys2670= | |
| XM_011542842.3:c.7844_7845delinsAG (ATM) | XP_011541144.1:p.Lys2615= | |
| XM_011542843.2:c.8009_8010delinsAG (ATM) | XP_011541145.1:p.Lys2670= | |
| XM_011542844.3:c.6965_6966delinsAG (ATM) | XP_011541146.1:p.Lys2322= | |
| XM_011542845.2:c.6701_6702delinsAG (ATM) | XP_011541147.1:p.Lys2234= | |
| XM_017017789.2:c.8009_8010delinsAG (ATM) | XP_016873278.1:p.Lys2670= | |
| XM_017017790.2:c.8009_8010delinsAG (ATM) | XP_016873279.1:p.Lys2670= | |
| NM_001330368.2:c.641-24897_641-24896delinsCT (C11orf65) | NP_001317297.1:n.641-24897_641-24896delinsCT | |
| NM_001351110.2:c.*38+1252_*38+1253delinsCT (C11orf65) | NP_001338039.1:n.*38+1252_*38+1253delinsCT | |
| NM_001351834.2:c.8009_8010delinsAG (ATM) | NP_001338763.1:p.Lys2670= | |
| NM_000051.4:c.8009_8010delinsAG (ATM) MANE Select | NP_000042.3:p.Lys2670= | |
| NR_147053.3:n.2372+1252_2372+1253delinsCT (C11orf65) |