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_000002.12:g.50054919_50054928delinsATTTTTTTAT , CM000664.2:g.50054919_50054928delinsATTTTTTTAT | GRCh38 |
| NC_000002.11:g.50282057_50282066delinsATTTTTTTAT , CM000664.1:g.50282057_50282066delinsATTTTTTTAT | GRCh37 |
| NC_000002.10:g.50135561_50135570delinsATTTTTTTAT | NCBI36 |
| NG_011878.1:g.982609_982618delinsATAAAAAAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401669.7:c.3808+27_3808+36delinsATAAAAAAAT MANE Select | ENSP00000385017.2:n.3808+27_3808+36delins... | |
| ENST00000637889.1:n.975+27_975+36delinsATAAAAAAAT | ||
| ENST00000637906.1:c.606-1338_606-1329delinsATAAAAAAAT | ENSP00000490198.1:n.606-1338_606-1329deli... | |
| ENST00000342183.9:c.614-1338_614-1329delinsATAAAAAAAT | ENSP00000341184.5:n.614-1338_614-1329deli... | |
| ENST00000401669.6:c.3808+27_3808+36delinsATAAAAAAAT | ENSP00000385017.2:n.3808+27_3808+36delins... | |
| ENST00000401710.5:c.703+27_703+36delinsATAAAAAAAT | ENSP00000385580.2:n.703+27_703+36delinsAT... | |
| ENST00000404971.5:c.3928+27_3928+36delinsATAAAAAAAT | ENSP00000385142.1:n.3928+27_3928+36delins... | |
| ENST00000405472.7:c.3772+27_3772+36delinsATAAAAAAAT | ENSP00000434015.2:n.3772+27_3772+36delins... | |
| ENST00000406316.6:c.3719-1338_3719-1329delinsATAAAAAAAT | ENSP00000384311.2:n.3719-1338_3719-1329de... | |
| ENST00000611589.4:c.-119-1338_-119-1329delinsATAAAAAAAT | ENSP00000483634.1:n.-119-1338_-119-1329de... | |
| ENST00000625672.2:c.3784+27_3784+36delinsATAAAAAAAT | ENSP00000485887.1:n.3784+27_3784+36delins... | |
| ENST00000628364.2:c.703+27_703+36delinsATAAAAAAAT | ENSP00000485815.1:n.703+27_703+36delinsAT... | |
| ENST00000630543.2:c.3784+27_3784+36delinsATAAAAAAAT | ENSP00000486879.1:n.3784+27_3784+36delins... | |
| ENST00000635264.1:n.617+27_617+36delinsATAAAAAAAT | ||
| NM_001135659.1:c.3928+27_3928+36delinsATAAAAAAAT | NP_001129131.1:n.3928+27_3928+36delinsATA... | |
| NM_004801.4:c.3719-1338_3719-1329delinsATAAAAAAAT | NP_004792.1:n.3719-1338_3719-1329delinsAT... | |
| NM_138735.2:c.614-1338_614-1329delinsATAAAAAAAT | NP_620072.1:n.614-1338_614-1329delinsATAA... | |
| XM_005264642.2:c.3829+27_3829+36delinsATAAAAAAAT | XP_005264699.1:n.3829+27_3829+36delinsATA... | |
| XM_005264643.2:c.3784+27_3784+36delinsATAAAAAAAT | XP_005264700.1:n.3784+27_3784+36delinsATA... | |
| XM_006712137.2:c.3740-1338_3740-1329delinsATAAAAAAAT | XP_006712200.1:n.3740-1338_3740-1329delin... | |
| XM_006712140.2:c.3829+27_3829+36delinsATAAAAAAAT | XP_006712203.1:n.3829+27_3829+36delinsATA... | |
| XM_011533167.1:c.3829+27_3829+36delinsATAAAAAAAT | XP_011531469.1:n.3829+27_3829+36delinsATA... | |
| XM_011533168.1:c.3826+27_3826+36delinsATAAAAAAAT | XP_011531470.1:n.3826+27_3826+36delinsATA... | |
| XM_011533169.1:c.3817+27_3817+36delinsATAAAAAAAT | XP_011531471.1:n.3817+27_3817+36delinsATA... | |
| XM_011533170.1:c.3811+27_3811+36delinsATAAAAAAAT | XP_011531472.1:n.3811+27_3811+36delinsATA... | |
| XM_011533171.1:c.3808+27_3808+36delinsATAAAAAAAT | XP_011531473.1:n.3808+27_3808+36delinsATA... | |
| XM_011533172.1:c.3802+27_3802+36delinsATAAAAAAAT | XP_011531474.1:n.3802+27_3802+36delinsATA... | |
| XM_011533173.1:c.3799+27_3799+36delinsATAAAAAAAT | XP_011531475.1:n.3799+27_3799+36delinsATA... | |
| XM_011533174.1:c.3784+27_3784+36delinsATAAAAAAAT | XP_011531476.1:n.3784+27_3784+36delinsATA... | |
| XM_011533175.1:c.3772+27_3772+36delinsATAAAAAAAT | XP_011531477.1:n.3772+27_3772+36delinsATA... | |
| XM_011533176.1:c.3769+27_3769+36delinsATAAAAAAAT | XP_011531478.1:n.3769+27_3769+36delinsATA... | |
| XM_011533177.1:c.3740-1338_3740-1329delinsATAAAAAAAT | XP_011531479.1:n.3740-1338_3740-1329delin... | |
| XM_011533178.1:c.3739+27_3739+36delinsATAAAAAAAT | XP_011531480.1:n.3739+27_3739+36delinsATA... | |
| XM_011533179.1:c.3695-1338_3695-1329delinsATAAAAAAAT | XP_011531481.1:n.3695-1338_3695-1329delin... | |
| XM_011533180.1:c.3829+27_3829+36delinsATAAAAAAAT | XP_011531482.1:n.3829+27_3829+36delinsATA... | |
| XM_011533181.1:c.3034+27_3034+36delinsATAAAAAAAT | XP_011531483.1:n.3034+27_3034+36delinsATA... | |
| XM_011533182.1:c.2989+27_2989+36delinsATAAAAAAAT | XP_011531484.1:n.2989+27_2989+36delinsATA... | |
| XM_011533183.1:c.2962+27_2962+36delinsATAAAAAAAT | XP_011531485.1:n.2962+27_2962+36delinsATA... | |
| XM_011533184.1:c.2869+27_2869+36delinsATAAAAAAAT | XP_011531486.1:n.2869+27_2869+36delinsATA... | |
| NM_001135659.2:c.3928+27_3928+36delinsATAAAAAAAT | NP_001129131.1:n.3928+27_3928+36delinsATA... | |
| NM_001330077.1:c.3784+27_3784+36delinsATAAAAAAAT | NP_001317006.1:n.3784+27_3784+36delinsATA... | |
| NM_001330078.1:c.3808+27_3808+36delinsATAAAAAAAT | NP_001317007.1:n.3808+27_3808+36delinsATA... | |
| NM_001330082.1:c.3784+27_3784+36delinsATAAAAAAAT | NP_001317011.1:n.3784+27_3784+36delinsATA... | |
| NM_001330083.1:c.3653-1338_3653-1329delinsATAAAAAAAT | NP_001317012.1:n.3653-1338_3653-1329delin... | |
| NM_001330084.1:c.3742+27_3742+36delinsATAAAAAAAT | NP_001317013.1:n.3742+27_3742+36delinsATA... | |
| NM_001330085.1:c.3781+27_3781+36delinsATAAAAAAAT | NP_001317014.1:n.3781+27_3781+36delinsATA... | |
| NM_001330086.1:c.3808+27_3808+36delinsATAAAAAAAT | NP_001317015.1:n.3808+27_3808+36delinsATA... | |
| NM_001330087.1:c.3608-1338_3608-1329delinsATAAAAAAAT | NP_001317016.1:n.3608-1338_3608-1329delin... | |
| NM_001330088.1:c.3638-1338_3638-1329delinsATAAAAAAAT | NP_001317017.1:n.3638-1338_3638-1329delin... | |
| NM_001330091.1:c.703+27_703+36delinsATAAAAAAAT | NP_001317020.1:n.703+27_703+36delinsATAAA... | |
| NM_001330092.1:c.703+27_703+36delinsATAAAAAAAT | NP_001317021.1:n.703+27_703+36delinsATAAA... | |
| NM_001330093.1:c.3805+27_3805+36delinsATAAAAAAAT | NP_001317022.1:n.3805+27_3805+36delinsATA... | |
| NM_001330094.1:c.3796+27_3796+36delinsATAAAAAAAT | NP_001317023.1:n.3796+27_3796+36delinsATA... | |
| NM_001330095.1:c.3668-1338_3668-1329delinsATAAAAAAAT | NP_001317024.1:n.3668-1338_3668-1329delin... | |
| NM_001330096.1:c.3608-1338_3608-1329delinsATAAAAAAAT | NP_001317025.1:n.3608-1338_3608-1329delin... | |
| NM_001330097.1:c.614-1338_614-1329delinsATAAAAAAAT | NP_001317026.1:n.614-1338_614-1329delinsA... | |
| NM_004801.5:c.3719-1338_3719-1329delinsATAAAAAAAT | NP_004792.1:n.3719-1338_3719-1329delinsAT... | |
| NM_138735.4:c.614-1338_614-1329delinsATAAAAAAAT | NP_620072.1:n.614-1338_614-1329delinsATAA... | |
| XM_005264642.4:c.3829+27_3829+36delinsATAAAAAAAT | XP_005264699.1:n.3829+27_3829+36delinsATA... | |
| XM_006712137.4:c.3740-1338_3740-1329delinsATAAAAAAAT | XP_006712200.1:n.3740-1338_3740-1329delin... | |
| XM_006712140.4:c.3856+27_3856+36delinsATAAAAAAAT | XP_006712203.2:n.3856+27_3856+36delinsATA... | |
| XM_011533167.3:c.3829+27_3829+36delinsATAAAAAAAT | XP_011531469.1:n.3829+27_3829+36delinsATA... | |
| XM_011533172.3:c.3802+27_3802+36delinsATAAAAAAAT | XP_011531474.1:n.3802+27_3802+36delinsATA... | |
| XM_011533175.3:c.3772+27_3772+36delinsATAAAAAAAT | XP_011531477.1:n.3772+27_3772+36delinsATA... | |
| XM_011533177.3:c.3740-1338_3740-1329delinsATAAAAAAAT | XP_011531479.1:n.3740-1338_3740-1329delin... | |
| XM_011533178.3:c.3739+27_3739+36delinsATAAAAAAAT | XP_011531480.1:n.3739+27_3739+36delinsATA... | |
| XM_011533180.3:c.3829+27_3829+36delinsATAAAAAAAT | XP_011531482.1:n.3829+27_3829+36delinsATA... | |
| XM_011533183.2:c.2962+27_2962+36delinsATAAAAAAAT | XP_011531485.1:n.2962+27_2962+36delinsATA... | |
| XM_017005303.2:c.3856+27_3856+36delinsATAAAAAAAT | XP_016860792.1:n.3856+27_3856+36delinsATA... | |
| XM_017005304.2:c.3853+27_3853+36delinsATAAAAAAAT | XP_016860793.1:n.3853+27_3853+36delinsATA... | |
| XM_017005305.2:c.3856+27_3856+36delinsATAAAAAAAT | XP_016860794.1:n.3856+27_3856+36delinsATA... | |
| XM_017005306.2:c.3844+27_3844+36delinsATAAAAAAAT | XP_016860795.1:n.3844+27_3844+36delinsATA... | |
| XM_017005307.2:c.3838+27_3838+36delinsATAAAAAAAT | XP_016860796.1:n.3838+27_3838+36delinsATA... | |
| XM_017005308.2:c.3835+27_3835+36delinsATAAAAAAAT | XP_016860797.1:n.3835+27_3835+36delinsATA... | |
| XM_017005309.2:c.3829+27_3829+36delinsATAAAAAAAT | XP_016860798.1:n.3829+27_3829+36delinsATA... | |
| XM_017005310.2:c.3826+27_3826+36delinsATAAAAAAAT | XP_016860799.1:n.3826+27_3826+36delinsATA... | |
| XM_017005311.2:c.3811+27_3811+36delinsATAAAAAAAT | XP_016860800.1:n.3811+27_3811+36delinsATA... | |
| XM_017005314.2:c.3796+27_3796+36delinsATAAAAAAAT | XP_016860803.1:n.3796+27_3796+36delinsATA... | |
| XM_017005315.2:c.3802+27_3802+36delinsATAAAAAAAT | XP_016860804.1:n.3802+27_3802+36delinsATA... | |
| XM_017005316.2:c.3793+27_3793+36delinsATAAAAAAAT | XP_016860805.1:n.3793+27_3793+36delinsATA... | |
| XM_017005318.2:c.3784+27_3784+36delinsATAAAAAAAT | XP_016860807.1:n.3784+27_3784+36delinsATA... | |
| XM_017005320.2:c.3781+27_3781+36delinsATAAAAAAAT | XP_016860809.1:n.3781+27_3781+36delinsATA... | |
| XM_017005321.2:c.3767-1338_3767-1329delinsATAAAAAAAT | XP_016860810.1:n.3767-1338_3767-1329delin... | |
| XM_017005322.2:c.3767-1338_3767-1329delinsATAAAAAAAT | XP_016860811.1:n.3767-1338_3767-1329delin... | |
| XM_017005324.2:c.3713-1338_3713-1329delinsATAAAAAAAT | XP_016860813.1:n.3713-1338_3713-1329delin... | |
| XM_017005325.2:c.3713-1338_3713-1329delinsATAAAAAAAT | XP_016860814.1:n.3713-1338_3713-1329delin... | |
| XM_017005326.2:c.3701-1338_3701-1329delinsATAAAAAAAT | XP_016860815.1:n.3701-1338_3701-1329delin... | |
| XM_017005327.2:c.3695-1338_3695-1329delinsATAAAAAAAT | XP_016860816.1:n.3695-1338_3695-1329delin... | |
| XM_017005329.2:c.3856+27_3856+36delinsATAAAAAAAT | XP_016860818.1:n.3856+27_3856+36delinsATA... | |
| XM_017005334.2:c.2896+27_2896+36delinsATAAAAAAAT | XP_016860823.1:n.2896+27_2896+36delinsATA... | |
| NM_001330078.2:c.3808+27_3808+36delinsATAAAAAAAT MANE Select | NP_001317007.1:n.3808+27_3808+36delinsATA... | |
| NM_001135659.3:c.3928+27_3928+36delinsATAAAAAAAT | NP_001129131.1:n.3928+27_3928+36delinsATA... | |
| NM_001330077.2:c.3784+27_3784+36delinsATAAAAAAAT | NP_001317006.1:n.3784+27_3784+36delinsATA... | |
| NM_001330082.2:c.3784+27_3784+36delinsATAAAAAAAT | NP_001317011.1:n.3784+27_3784+36delinsATA... | |
| NM_001330083.2:c.3653-1338_3653-1329delinsATAAAAAAAT | NP_001317012.1:n.3653-1338_3653-1329delin... | |
| NM_001330084.2:c.3742+27_3742+36delinsATAAAAAAAT | NP_001317013.1:n.3742+27_3742+36delinsATA... | |
| NM_001330085.2:c.3781+27_3781+36delinsATAAAAAAAT | NP_001317014.1:n.3781+27_3781+36delinsATA... | |
| NM_001330086.2:c.3808+27_3808+36delinsATAAAAAAAT | NP_001317015.1:n.3808+27_3808+36delinsATA... | |
| NM_001330087.2:c.3608-1338_3608-1329delinsATAAAAAAAT | NP_001317016.1:n.3608-1338_3608-1329delin... | |
| NM_001330088.2:c.3638-1338_3638-1329delinsATAAAAAAAT | NP_001317017.1:n.3638-1338_3638-1329delin... | |
| NM_001330091.2:c.703+27_703+36delinsATAAAAAAAT | NP_001317020.1:n.703+27_703+36delinsATAAA... | |
| NM_001330092.2:c.703+27_703+36delinsATAAAAAAAT | NP_001317021.1:n.703+27_703+36delinsATAAA... | |
| NM_001330093.2:c.3805+27_3805+36delinsATAAAAAAAT | NP_001317022.1:n.3805+27_3805+36delinsATA... | |
| NM_001330094.2:c.3796+27_3796+36delinsATAAAAAAAT | NP_001317023.1:n.3796+27_3796+36delinsATA... | |
| NM_001330095.2:c.3668-1338_3668-1329delinsATAAAAAAAT | NP_001317024.1:n.3668-1338_3668-1329delin... | |
| NM_001330096.2:c.3608-1338_3608-1329delinsATAAAAAAAT | NP_001317025.1:n.3608-1338_3608-1329delin... | |
| NM_001330097.2:c.614-1338_614-1329delinsATAAAAAAAT | NP_001317026.1:n.614-1338_614-1329delinsA... | |
| NM_004801.6:c.3719-1338_3719-1329delinsATAAAAAAAT | NP_004792.1:n.3719-1338_3719-1329delinsAT... | |
| NM_138735.5:c.614-1338_614-1329delinsATAAAAAAAT | NP_620072.1:n.614-1338_614-1329delinsATAA... |