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_000023.11:g.[154030582_154030712del;154030739_154030741del;154030793_154030819del] , CM000685.2:g.[154030582_154030712del;154030739_154030741del;154030793_154030819del] | GRCh38 |
| NC_000023.10:g.[153296033_153296163del;153296190_153296192del;153296244_153296270del] , CM000685.1:g.[153296033_153296163del;153296190_153296192del;153296244_153296270del] | GRCh37 |
| NC_000023.9:g.[152949227_152949357del;152949384_152949386del;152949438_152949464del] | NCBI36 |
| NG_007107.2:g.[111310_111336del;111390_111392del;111416_111546del] | |
| NG_007107.3:g.[111286_111312del;111366_111368del;111392_111522del] |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.[1010_1036del;1090_1092del;1116_1246del] MANE Plus Clinical | ENSP00000301948.6:p.[Lys337_Lys345del;Lys364del;His372GlnfsTe... | |
| ENST00000453960.7:c.[1046_1072del;1126_1128del;1152_1282del] MANE Select | ENSP00000395535.2:p.[Lys349_Lys357del;Lys376del;His384GlnfsTe... | |
| ENST00000303391.10:c.[1010_1036del;1090_1092del;1116_1246del] | ENSP00000301948.6:p.[Lys337_Lys345del;Lys364del;His372GlnfsTe... | |
| ENST00000453960.6:c.[1046_1072del;1126_1128del;1152_1282del] | ENSP00000395535.2:p.[Lys349_Lys357del;Lys376del;His384GlnfsTe... | |
| ENST00000619732.4:c.[1010_1036del;1090_1092del;1116_1246del] | ENSP00000480973.1:p.[Lys337_Lys345del;Lys364del;His372GlnfsTe... | |
| ENST00000628176.2:c.[*382_*408del;*462_*464del;*488_*618del] | ENSP00000486978.1:n.[*382_*408del;*462_*464del;*488_*618del] | |
| NM_001110792.1:c.[1046_1072del;1126_1128del;1152_1282del] | NP_001104262.1:p.[Lys349_Lys357del;Lys376del;His384GlnfsTer20... | |
| NM_001316337.1:c.[731_757del;811_813del;837_967del] | NP_001303266.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_004992.3:c.[1010_1036del;1090_1092del;1116_1246del] | NP_004983.1:p.[Lys337_Lys345del;Lys364del;His372GlnfsTer20] | |
| XM_005274681.3:c.[1010_1036del;1090_1092del;1116_1246del] | XP_005274738.1:p.[Lys337_Lys345del;Lys364del;His372GlnfsTer20... | |
| XM_005274682.3:c.[731_757del;811_813del;837_967del] | XP_005274739.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| XM_005274683.3:c.[731_757del;811_813del;837_967del] | XP_005274740.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| XM_006724819.2:c.[341_367del;421_423del;447_577del] | XP_006724882.1:p.[Lys114_Lys122del;Lys141del;His149GlnfsTer20... | |
| XM_011531166.1:c.[731_757del;811_813del;837_967del] | XP_011529468.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| XM_006724819.3:c.[341_367del;421_423del;447_577del] | XP_006724882.1:p.[Lys114_Lys122del;Lys141del;His149GlnfsTer20... | |
| XM_011531166.2:c.[731_757del;811_813del;837_967del] | XP_011529468.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| XM_024452383.1:c.[731_757del;811_813del;837_967del] | XP_024308151.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| XM_024452384.1:c.[731_757del;811_813del;837_967del] | XP_024308152.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_001110792.2:c.[1046_1072del;1126_1128del;1152_1282del] MANE Select | NP_001104262.1:p.[Lys349_Lys357del;Lys376del;His384GlnfsTer20... | |
| NM_001316337.2:c.[731_757del;811_813del;837_967del] | NP_001303266.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_001369391.2:c.[731_757del;811_813del;837_967del] | NP_001356320.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_001369392.2:c.[731_757del;811_813del;837_967del] | NP_001356321.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_001369393.2:c.[731_757del;811_813del;837_967del] | NP_001356322.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_001369394.1:c.[731_757del;811_813del;837_967del] | NP_001356323.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_001369394.2:c.[731_757del;811_813del;837_967del] | NP_001356323.1:p.[Lys244_Lys252del;Lys271del;His279GlnfsTer20... | |
| NM_001386137.1:c.[341_367del;421_423del;447_577del] | NP_001373066.1:p.[Lys114_Lys122del;Lys141del;His149GlnfsTer20... | |
| NM_001386138.1:c.[341_367del;421_423del;447_577del] | NP_001373067.1:p.[Lys114_Lys122del;Lys141del;His149GlnfsTer20... | |
| NM_001386139.1:c.[341_367del;421_423del;447_577del] | NP_001373068.1:p.[Lys114_Lys122del;Lys141del;His149GlnfsTer20... | |
| NM_004992.4:c.[1010_1036del;1090_1092del;1116_1246del] MANE Plus Clinical | NP_004983.1:p.[Lys337_Lys345del;Lys364del;His372GlnfsTer20] |