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.1486257_1486267delinsTATACACACAA , CM000674.2:g.1486257_1486267delinsTATACACACAA | GRCh38 |
| NC_000012.11:g.1595423_1595433delinsTATACACACAA , CM000674.1:g.1595423_1595433delinsTATACACACAA | GRCh37 |
| NC_000012.10:g.1465684_1465694delinsTATACACACAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397203.7:c.3214-3836_3214-3826delinsTATACACACAA | ENSP00000380386.4:n.3214-3836_3214-3826delinsTATACACACAA | |
| ENST00000589028.6:c.3214-3836_3214-3826delinsTATACACACAA | ENSP00000468263.1:n.3214-3836_3214-3826delinsTATACACACAA | |
| ENST00000691140.1:n.561-3836_561-3826delinsTATACACACAA | ||
| ENST00000360905.9:c.3214-3836_3214-3826delinsTATACACACAA MANE Select | ENSP00000354158.3:n.3214-3836_3214-3826delinsTATACACACAA | |
| ENST00000347735.10:c.*228-3836_*228-3826delinsTATACACACAA | ENSP00000340054.6:n.*228-3836_*228-3826delinsTATACACACAA | |
| ENST00000355446.9:c.*9-3836_*9-3826delinsTATACACACAA | ENSP00000347621.5:n.*9-3836_*9-3826delinsTATACACACAA | |
| ENST00000360905.8:c.3214-3836_3214-3826delinsTATACACACAA | ENSP00000354158.3:n.3214-3836_3214-3826delinsTATACACACAA | |
| ENST00000397203.6:c.3130-3836_3130-3826delinsTATACACACAA | ENSP00000380386.3:n.3130-3836_3130-3826delinsTATACACACAA | |
| ENST00000440394.7:c.*228-3836_*228-3826delinsTATACACACAA | ENSP00000410064.2:n.*228-3836_*228-3826delinsTATACACACAA | |
| ENST00000542302.6:c.*228-3836_*228-3826delinsTATACACACAA | ENSP00000445336.2:n.*228-3836_*228-3826delinsTATACACACAA | |
| ENST00000543086.7:c.3130-3836_3130-3826delinsTATACACACAA | ENSP00000438546.1:n.3130-3836_3130-3826delinsTATACACACAA | |
| ENST00000543151.1:n.1461-3836_1461-3826delinsTATACACACAA | ||
| ENST00000545948.5:c.*228-3836_*228-3826delinsTATACACACAA | ENSP00000442976.1:n.*228-3836_*228-3826delinsTATACACACAA | |
| ENST00000546231.6:c.3226-3836_3226-3826delinsTATACACACAA | ENSP00000442739.2:n.3226-3836_3226-3826delinsTATACACACAA | |
| ENST00000588412.5:c.1085-3836_1085-3826delinsTATACACACAA | ||
| ENST00000589028.5:c.3214-3836_3214-3826delinsTATACACACAA | ENSP00000468263.1:n.3214-3836_3214-3826delinsTATACACACAA | |
| ENST00000611180.4:c.*228-3836_*228-3826delinsTATACACACAA | ENSP00000479523.1:n.*228-3836_*228-3826delinsTATACACACAA | |
| NM_001301248.1:c.*9-3836_*9-3826delinsTATACACACAA | NP_001288177.1:n.*9-3836_*9-3826delinsTATACACACAA | |
| NM_178039.3:c.3130-3836_3130-3826delinsTATACACACAA | NP_829883.1:n.3130-3836_3130-3826delinsTATACACACAA | |
| NM_178040.3:c.3214-3836_3214-3826delinsTATACACACAA | NP_829884.1:n.3214-3836_3214-3826delinsTATACACACAA | |
| NR_027946.2:n.3511-3836_3511-3826delinsTATACACACAA | ||
| NR_027948.2:n.3643-3836_3643-3826delinsTATACACACAA | ||
| NR_027949.2:n.2662-3836_2662-3826delinsTATACACACAA | ||
| XM_011520936.1:c.3319-3836_3319-3826delinsTATACACACAA | XP_011519238.1:n.3319-3836_3319-3826delinsTATACACACAA | |
| XM_011520937.1:c.3235-3836_3235-3826delinsTATACACACAA | XP_011519239.1:n.3235-3836_3235-3826delinsTATACACACAA | |
| XM_011520938.1:c.3356-3836_3356-3826delinsTATACACACAA | XP_011519240.1:n.3356-3836_3356-3826delinsTATACACACAA | |
| XM_011520939.1:c.3226-3836_3226-3826delinsTATACACACAA | XP_011519241.1:n.3226-3836_3226-3826delinsTATACACACAA | |
| XM_011520940.1:c.3223-3836_3223-3826delinsTATACACACAA | XP_011519242.1:n.3223-3836_3223-3826delinsTATACACACAA | |
| XM_011520941.1:c.3214-3836_3214-3826delinsTATACACACAA | XP_011519243.1:n.3214-3836_3214-3826delinsTATACACACAA | |
| XM_011520942.1:c.3130-3836_3130-3826delinsTATACACACAA | XP_011519244.1:n.3130-3836_3130-3826delinsTATACACACAA | |
| XR_931508.1:n.3597-3836_3597-3826delinsTATACACACAA | ||
| XR_931510.1:n.3584-3836_3584-3826delinsTATACACACAA | ||
| XM_011520941.2:c.3214-3836_3214-3826delinsTATACACACAA | XP_011519243.1:n.3214-3836_3214-3826delinsTATACACACAA | |
| XM_017019052.1:c.3289-3836_3289-3826delinsTATACACACAA | XP_016874541.1:n.3289-3836_3289-3826delinsTATACACACAA | |
| XM_017019053.1:c.3289-3836_3289-3826delinsTATACACACAA | XP_016874542.1:n.3289-3836_3289-3826delinsTATACACACAA | |
| XM_017019054.1:c.3289-3836_3289-3826delinsTATACACACAA | XP_016874543.1:n.3289-3836_3289-3826delinsTATACACACAA | |
| XM_017019055.2:c.3289-3836_3289-3826delinsTATACACACAA | XP_016874544.1:n.3289-3836_3289-3826delinsTATACACACAA | |
| XM_017019056.1:c.3289-3836_3289-3826delinsTATACACACAA | XP_016874545.1:n.3289-3836_3289-3826delinsTATACACACAA | |
| XM_017019057.1:c.3280-3836_3280-3826delinsTATACACACAA | XP_016874546.1:n.3280-3836_3280-3826delinsTATACACACAA | |
| XM_017019058.1:c.3280-3836_3280-3826delinsTATACACACAA | XP_016874547.1:n.3280-3836_3280-3826delinsTATACACACAA | |
| XM_017019059.1:c.3277-3836_3277-3826delinsTATACACACAA | XP_016874548.1:n.3277-3836_3277-3826delinsTATACACACAA | |
| XM_017019060.1:c.3268-3836_3268-3826delinsTATACACACAA | XP_016874549.1:n.3268-3836_3268-3826delinsTATACACACAA | |
| XM_017019061.1:c.3235-3836_3235-3826delinsTATACACACAA | XP_016874550.1:n.3235-3836_3235-3826delinsTATACACACAA | |
| XM_017019062.1:c.3226-3836_3226-3826delinsTATACACACAA | XP_016874551.1:n.3226-3836_3226-3826delinsTATACACACAA | |
| XM_017019063.1:c.3223-3836_3223-3826delinsTATACACACAA | XP_016874552.1:n.3223-3836_3223-3826delinsTATACACACAA | |
| XM_017019064.1:c.3214-3836_3214-3826delinsTATACACACAA | XP_016874553.1:n.3214-3836_3214-3826delinsTATACACACAA | |
| XM_017019065.1:c.3196-3836_3196-3826delinsTATACACACAA | XP_016874554.1:n.3196-3836_3196-3826delinsTATACACACAA | |
| XM_017019066.1:c.3142-3836_3142-3826delinsTATACACACAA | XP_016874555.1:n.3142-3836_3142-3826delinsTATACACACAA | |
| XM_017019067.1:c.3130-3836_3130-3826delinsTATACACACAA | XP_016874556.1:n.3130-3836_3130-3826delinsTATACACACAA | |
| XM_017019068.1:c.*9-3836_*9-3826delinsTATACACACAA | XP_016874557.1:n.*9-3836_*9-3826delinsTATACACACAA | |
| XM_017019069.1:c.3103-3836_3103-3826delinsTATACACACAA | XP_016874558.1:n.3103-3836_3103-3826delinsTATACACACAA | |
| XM_017019070.1:c.3082-3836_3082-3826delinsTATACACACAA | XP_016874559.1:n.3082-3836_3082-3826delinsTATACACACAA | |
| XM_017019071.1:c.3010-3836_3010-3826delinsTATACACACAA | XP_016874560.1:n.3010-3836_3010-3826delinsTATACACACAA | |
| XM_017019074.1:c.1501-3836_1501-3826delinsTATACACACAA | XP_016874563.1:n.1501-3836_1501-3826delinsTATACACACAA | |
| XM_017019075.1:c.1447-3836_1447-3826delinsTATACACACAA | XP_016874564.1:n.1447-3836_1447-3826delinsTATACACACAA | |
| XR_001748632.1:n.3681-3836_3681-3826delinsTATACACACAA | ||
| XR_001748633.1:n.3669-3836_3669-3826delinsTATACACACAA | ||
| XR_001748634.1:n.3777-3836_3777-3826delinsTATACACACAA | ||
| XR_001748635.1:n.3448-3836_3448-3826delinsTATACACACAA | ||
| XR_001748636.1:n.3549-3836_3549-3826delinsTATACACACAA | ||
| XR_001748637.1:n.3540-3836_3540-3826delinsTATACACACAA | ||
| NM_178040.4:c.3214-3836_3214-3826delinsTATACACACAA MANE Select | NP_829884.1:n.3214-3836_3214-3826delinsTATACACACAA | |
| NM_178039.4:c.3130-3836_3130-3826delinsTATACACACAA | NP_829883.1:n.3130-3836_3130-3826delinsTATACACACAA | |
| NR_027946.3:n.3496-3836_3496-3826delinsTATACACACAA | ||
| NR_027948.3:n.3628-3836_3628-3826delinsTATACACACAA | ||
| NR_027949.3:n.2647-3836_2647-3826delinsTATACACACAA |