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_000012.12:g.88102805_88102806delinsAT , CM000674.2:g.88102805_88102806delinsAT | GRCh38 |
| NC_000012.11:g.88496582_88496583delinsAT , CM000674.1:g.88496582_88496583delinsAT | GRCh37 |
| NC_000012.10:g.87020713_87020714delinsAT | NCBI36 |
| NG_008417.1:g.44411_44412delinsAT | |
| NG_008417.2:g.44411_44412delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309041.12:c.2991+32_2991+33delinsAT | ENSP00000308021.8:n.2991+32_2991+33delins... | |
| ENST00000547691.8:c.275+32_275+33delinsAT | ||
| ENST00000552810.6:c.2991+32_2991+33delinsAT MANE Select | ENSP00000448012.1:n.2991+32_2991+33delins... | |
| ENST00000672414.2:c.*1162+32_*1162+33delinsAT | ENSP00000500729.1:n.*1162+32_*1162+33deli... | |
| ENST00000672647.1:n.1351+32_1351+33delinsAT | ||
| ENST00000673058.2:c.2991+32_2991+33delinsAT | ENSP00000500665.2:n.2991+32_2991+33delins... | |
| ENST00000674971.1:c.2991+32_2991+33delinsAT | ENSP00000502194.1:n.2991+32_2991+33delins... | |
| ENST00000675089.1:c.174+32_174+33delinsAT | ENSP00000501582.1:n.174+32_174+33delinsAT... | |
| ENST00000675230.1:c.2970+32_2970+33delinsAT | ENSP00000502503.1:n.2970+32_2970+33delins... | |
| ENST00000675408.1:c.2991+32_2991+33delinsAT | ENSP00000502298.1:n.2991+32_2991+33delins... | |
| ENST00000675476.1:c.3852+32_3852+33delinsAT | ENSP00000502161.1:n.3852+32_3852+33delins... | |
| ENST00000675628.1:n.3218+32_3218+33delinsAT | ||
| ENST00000675794.1:c.*1162+32_*1162+33delinsAT | ENSP00000502841.1:n.*1162+32_*1162+33deli... | |
| ENST00000675833.1:c.3759+32_3759+33delinsAT | ENSP00000502559.1:n.3759+32_3759+33delins... | |
| ENST00000676074.1:c.2991+32_2991+33delinsAT | ENSP00000502079.1:n.2991+32_2991+33delins... | |
| ENST00000676181.1:n.679+32_679+33delinsAT | ||
| ENST00000676363.1:n.8717+32_8717+33delinsAT | ||
| ENST00000676448.1:c.*904+32_*904+33delinsAT | ENSP00000501987.1:n.*904+32_*904+33delins... | |
| ENST00000309041.11:c.2997+32_2997+33delinsAT | ENSP00000308021.7:n.2997+32_2997+33delins... | |
| ENST00000547691.6:c.171+32_171+33delinsAT | ENSP00000446905.1:n.171+32_171+33delinsAT... | |
| ENST00000552810.5:c.2991+32_2991+33delinsAT | ENSP00000448012.1:n.2991+32_2991+33delins... | |
| ENST00000604024.5:c.2250+32_2250+33delinsAT | ENSP00000473863.1:n.2250+32_2250+33delins... | |
| NM_025114.3:c.2991+32_2991+33delinsAT | NP_079390.3:n.2991+32_2991+33delinsAT | |
| XM_011538756.1:c.3852+32_3852+33delinsAT | XP_011537058.1:n.3852+32_3852+33delinsAT | |
| XM_011538757.1:c.3852+32_3852+33delinsAT | XP_011537059.1:n.3852+32_3852+33delinsAT | |
| XM_011538758.1:c.3852+32_3852+33delinsAT | XP_011537060.1:n.3852+32_3852+33delinsAT | |
| XM_011538759.1:c.3852+32_3852+33delinsAT | XP_011537061.1:n.3852+32_3852+33delinsAT | |
| XM_011538760.1:c.3852+32_3852+33delinsAT | XP_011537062.1:n.3852+32_3852+33delinsAT | |
| XM_011538761.1:c.3852+32_3852+33delinsAT | XP_011537063.1:n.3852+32_3852+33delinsAT | |
| XM_011538762.1:c.3084+32_3084+33delinsAT | XP_011537064.1:n.3084+32_3084+33delinsAT | |
| XM_011538763.1:c.2991+32_2991+33delinsAT | XP_011537065.1:n.2991+32_2991+33delinsAT | |
| XM_011538764.1:c.3852+32_3852+33delinsAT | XP_011537066.1:n.3852+32_3852+33delinsAT | |
| XM_011538765.1:c.3852+32_3852+33delinsAT | XP_011537067.1:n.3852+32_3852+33delinsAT | |
| XM_011538766.1:c.2313+32_2313+33delinsAT | XP_011537068.1:n.2313+32_2313+33delinsAT | |
| XM_011538756.3:c.3852+32_3852+33delinsAT | XP_011537058.1:n.3852+32_3852+33delinsAT | |
| XM_011538757.3:c.3852+32_3852+33delinsAT | XP_011537059.1:n.3852+32_3852+33delinsAT | |
| XM_011538758.3:c.3852+32_3852+33delinsAT | XP_011537060.1:n.3852+32_3852+33delinsAT | |
| XM_011538759.2:c.3852+32_3852+33delinsAT | XP_011537061.1:n.3852+32_3852+33delinsAT | |
| XM_011538760.2:c.3852+32_3852+33delinsAT | XP_011537062.1:n.3852+32_3852+33delinsAT | |
| XM_011538761.2:c.3852+32_3852+33delinsAT | XP_011537063.1:n.3852+32_3852+33delinsAT | |
| XM_011538762.3:c.3084+32_3084+33delinsAT | XP_011537064.1:n.3084+32_3084+33delinsAT | |
| XM_011538763.3:c.2991+32_2991+33delinsAT | XP_011537065.1:n.2991+32_2991+33delinsAT | |
| XM_011538764.3:c.3852+32_3852+33delinsAT | XP_011537066.1:n.3852+32_3852+33delinsAT | |
| XM_011538765.3:c.3852+32_3852+33delinsAT | XP_011537067.1:n.3852+32_3852+33delinsAT | |
| XM_011538766.3:c.2313+32_2313+33delinsAT | XP_011537068.1:n.2313+32_2313+33delinsAT | |
| XM_017019980.2:c.3852+32_3852+33delinsAT | XP_016875469.1:n.3852+32_3852+33delinsAT | |
| XM_017019981.2:c.3852+32_3852+33delinsAT | XP_016875470.1:n.3852+32_3852+33delinsAT | |
| XM_017019982.1:c.3852+32_3852+33delinsAT | XP_016875471.1:n.3852+32_3852+33delinsAT | |
| XM_017019983.2:c.2970+32_2970+33delinsAT | XP_016875472.1:n.2970+32_2970+33delinsAT | |
| XR_001748869.1:n.4196+32_4196+33delinsAT | ||
| XR_001748870.2:n.4196+32_4196+33delinsAT | ||
| NM_025114.4:c.2991+32_2991+33delinsAT MANE Select | NP_079390.3:n.2991+32_2991+33delinsAT |