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.17402490C= , CM000673.2:g.17402490C= | GRCh38 |
| NC_000011.9:g.17424037C= , CM000673.1:g.17424037C= | GRCh37 |
| NC_000011.8:g.17380613C= | NCBI36 |
| NG_008867.1:g.79413G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3219+171G= | ||
| ENST00000528374.2:c.229+171G= | ||
| ENST00000529967.6:n.1989+171G= | ||
| ENST00000532220.2:n.1382+171G= | ||
| ENST00000642611.2:n.3719+171G= | ||
| ENST00000644057.2:n.93+171G= | ||
| ENST00000645004.2:n.1149+171G= | ||
| ENST00000682051.1:n.3666+171G= | ||
| ENST00000682110.1:n.3719+171G= | ||
| ENST00000682140.1:c.3647+171G= | ENSP00000507829.1:n.3647+171G= | |
| ENST00000682185.1:n.4955+171G= | ||
| ENST00000682204.1:c.*1788+171G= | ENSP00000507094.1:n.*1788+171G= | |
| ENST00000682215.1:n.3716+171G= | ||
| ENST00000682288.1:c.*2081+171G= | ENSP00000507506.1:n.*2081+171G= | |
| ENST00000682442.1:n.3939+171G= | ||
| ENST00000682528.1:n.3796+171G= | ||
| ENST00000682673.1:n.3663+171G= | ||
| ENST00000682805.1:n.3716+171G= | ||
| ENST00000682965.1:c.*72+171G= | ENSP00000508229.1:n.*72+171G= | |
| ENST00000683093.1:n.3818+171G= | ||
| ENST00000683136.1:c.3647+171G= | ENSP00000507768.1:n.3647+171G= | |
| ENST00000683153.1:n.3875+171G= | ||
| ENST00000683365.1:n.3821+171G= | ||
| ENST00000683377.1:n.3719+171G= | ||
| ENST00000683456.1:c.*787+171G= | ENSP00000508318.1:n.*787+171G= | |
| ENST00000683522.1:n.3719+171G= | ||
| ENST00000683562.1:c.*1819+171G= | ENSP00000508265.1:n.*1819+171G= | |
| ENST00000683693.1:n.3796+171G= | ||
| ENST00000683725.1:c.3650+171G= | ENSP00000507496.1:n.3650+171G= | |
| ENST00000684010.1:n.3714+171G= | ||
| ENST00000684157.1:n.3719+171G= | ||
| ENST00000684253.1:n.3622+171G= | ||
| ENST00000684288.1:c.*1822+171G= | ENSP00000507143.1:n.*1822+171G= | |
| ENST00000684313.1:n.3151+171G= | ||
| ENST00000684332.1:n.3792+171G= | ||
| ENST00000684371.1:n.3825+171G= | ||
| ENST00000684404.1:n.3762+171G= | ||
| ENST00000684442.1:n.3719+171G= | ||
| ENST00000684555.1:c.*1862+171G= | ENSP00000507705.1:n.*1862+171G= | |
| ENST00000684571.1:c.3491+171G= | ENSP00000506935.1:n.3491+171G= | |
| ENST00000684593.1:c.*3355+171G= | ENSP00000507005.1:n.*3355+171G= | |
| ENST00000684711.1:c.*2046+171G= | ENSP00000506841.1:n.*2046+171G= | |
| ENST00000302539.9:c.3653+171G= | ENSP00000303960.4:n.3653+171G= | |
| ENST00000389817.8:c.3650+171G= MANE Select | ENSP00000374467.4:n.3650+171G= | |
| ENST00000642271.1:c.3647+171G= | ENSP00000493749.1:n.3647+171G= | |
| ENST00000642579.1:c.1734+171G= | ||
| ENST00000642611.1:n.3604+171G= | ||
| ENST00000642902.1:c.3432+171G= | ||
| ENST00000643260.1:c.3650+171G= | ENSP00000494450.1:n.3650+171G= | |
| ENST00000643562.1:c.*1626+171G= | ENSP00000496124.1:n.*1626+171G= | |
| ENST00000643925.1:c.1774+171G= | ||
| ENST00000644447.1:c.2006+171G= | ENSP00000496282.1:n.2006+171G= | |
| ENST00000644484.1:c.*1905+171G= | ENSP00000493558.1:n.*1905+171G= | |
| ENST00000644675.1:c.*1822+171G= | ENSP00000494567.1:n.*1822+171G= | |
| ENST00000644757.1:c.*1935+171G= | ENSP00000495085.1:n.*1935+171G= | |
| ENST00000644772.1:c.3716+171G= | ENSP00000494321.1:n.3716+171G= | |
| ENST00000645004.1:n.789+171G= | ||
| ENST00000645076.1:c.2849+171G= | ||
| ENST00000645417.1:c.816+171G= | ||
| ENST00000645744.1:c.*1914+171G= | ENSP00000494564.1:n.*1914+171G= | |
| ENST00000645760.1:c.3925+171G= | ||
| ENST00000645884.1:c.*787+171G= | ENSP00000495516.1:n.*787+171G= | |
| ENST00000646003.1:c.*1606+171G= | ENSP00000495259.1:n.*1606+171G= | |
| ENST00000646207.1:c.*2117+171G= | ENSP00000495025.1:n.*2117+171G= | |
| ENST00000646276.1:c.*1923+171G= | ENSP00000496070.1:n.*1923+171G= | |
| ENST00000646592.1:c.2956+171G= | ||
| ENST00000646902.1:c.3647+171G= | ENSP00000494101.1:n.3647+171G= | |
| ENST00000646993.1:c.*2046+171G= | ENSP00000493720.1:n.*2046+171G= | |
| ENST00000647013.1:c.3656+171G= | ENSP00000496741.1:n.3656+171G= | |
| ENST00000647015.1:c.3401+171G= | ENSP00000495389.1:n.3401+171G= | |
| ENST00000647086.1:c.*3380+171G= | ENSP00000493677.1:n.*3380+171G= | |
| ENST00000647158.1:c.*1791+171G= | ENSP00000495744.1:n.*1791+171G= | |
| ENST00000302539.8:c.3653+171G= | ENSP00000303960.4:n.3653+171G= | |
| ENST00000389817.7:c.3650+171G= | ENSP00000374467.3:n.3650+171G= | |
| ENST00000527905.5:c.*526+171G= | ENSP00000431653.1:n.*526+171G= | |
| ENST00000528374.1:c.120+171G= | ||
| ENST00000531137.1:n.143+171G= | ||
| ENST00000531891.1:c.18+171G= | ||
| NM_000352.4:c.3650+171G= | NP_000343.2:n.3650+171G= | |
| NM_001287174.1:c.3653+171G= | NP_001274103.1:n.3653+171G= | |
| XM_011520331.1:c.3650+171G= | XP_011518633.1:n.3650+171G= | |
| XM_011520332.1:c.3653+171G= | XP_011518634.1:n.3653+171G= | |
| XM_011520333.1:c.2150+171G= | XP_011518635.1:n.2150+171G= | |
| XR_930890.1:n.3716+171G= | ||
| XR_930892.1:n.3616+171G= | ||
| XR_930893.1:n.3613+171G= | ||
| NM_001351295.1:c.3716+171G= | NP_001338224.1:n.3716+171G= | |
| NM_001351296.1:c.3650+171G= | NP_001338225.1:n.3650+171G= | |
| NM_001351297.1:c.3647+171G= | NP_001338226.1:n.3647+171G= | |
| NR_147094.1:n.3799+171G= | ||
| XM_017018197.2:c.3719+171G= | XP_016873686.1:n.3719+171G= | |
| XM_017018199.1:c.3716+171G= | XP_016873688.1:n.3716+171G= | |
| XM_017018201.2:c.3719+171G= | XP_016873690.1:n.3719+171G= | |
| XM_017018202.1:c.2216+171G= | XP_016873691.1:n.2216+171G= | |
| XM_017018204.1:c.1607+171G= | XP_016873693.1:n.1607+171G= | |
| XM_024448668.1:c.2018+171G= | XP_024304436.1:n.2018+171G= | |
| XR_001747945.2:n.3791+171G= | ||
| XR_001747946.2:n.3722+171G= | ||
| XR_002957189.1:n.3871+171G= | ||
| NM_000352.6:c.3650+171G= MANE Select | NP_000343.2:n.3650+171G= | |
| NM_001287174.2:c.3653+171G= | NP_001274103.1:n.3653+171G= | |
| NM_001351295.2:c.3716+171G= | NP_001338224.1:n.3716+171G= | |
| NM_001351296.2:c.3650+171G= | NP_001338225.1:n.3650+171G= | |
| NM_001351297.2:c.3647+171G= | NP_001338226.1:n.3647+171G= | |
| NR_147094.2:n.3799+171G= | ||
| NM_001287174.3:c.3653+171G= | NP_001274103.1:n.3653+171G= |