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_000003.12:g.9475459_9475460delinsTC , CM000665.2:g.9475459_9475460delinsTC | GRCh38 |
| NC_000003.11:g.9517143_9517144delinsTC , CM000665.1:g.9517143_9517144delinsTC | GRCh37 |
| NC_000003.10:g.9492143_9492144delinsTC | NCBI36 |
| NG_034132.1:g.82760_82761delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682236.1:n.2676-24_2676-23delinsTC | ||
| ENST00000682536.1:c.3817-24_3817-23delinsTC | ENSP00000507956.1:n.3817-24_3817-23delinsTC | |
| ENST00000687014.1:n.4710-24_4710-23delinsTC | ||
| ENST00000689167.1:n.2077_2078delinsTC | ||
| ENST00000691925.1:n.6494_6495delinsTC | ||
| ENST00000693430.1:n.5939_5940delinsTC | ||
| ENST00000402198.7:c.3721-24_3721-23delinsTC MANE Select | ENSP00000385852.2:n.3721-24_3721-23delinsTC | |
| ENST00000663774.1:c.*3867-24_*3867-23delinsTC | ENSP00000499452.1:n.*3867-24_*3867-23delinsTC | |
| ENST00000665872.1:c.*3790-24_*3790-23delinsTC | ENSP00000499600.1:n.*3790-24_*3790-23delinsTC | |
| ENST00000666307.1:c.*4095-24_*4095-23delinsTC | ENSP00000499402.1:n.*4095-24_*4095-23delinsTC | |
| ENST00000670063.1:c.*3826-24_*3826-23delinsTC | ENSP00000499725.1:n.*3826-24_*3826-23delinsTC | |
| ENST00000302463.10:c.3427-24_3427-23delinsTC | ENSP00000302028.6:n.3427-24_3427-23delinsTC | |
| ENST00000399686.6:c.2722+303_2722+304delinsTC | ||
| ENST00000402198.5:c.3721-24_3721-23delinsTC | ENSP00000385852.1:n.3721-24_3721-23delinsTC | |
| ENST00000406341.5:c.3721-24_3721-23delinsTC | ENSP00000383939.1:n.3721-24_3721-23delinsTC | |
| ENST00000407969.5:c.3778-24_3778-23delinsTC | ENSP00000384114.1:n.3778-24_3778-23delinsTC | |
| ENST00000413704.5:c.2757-24_2757-23delinsTC | ||
| ENST00000459941.1:n.852-24_852-23delinsTC | ||
| ENST00000466242.5:n.3062-24_3062-23delinsTC | ||
| ENST00000466826.1:n.108-24_108-23delinsTC | ||
| ENST00000493918.5:n.3885-24_3885-23delinsTC | ||
| NM_001080517.2:c.3721-24_3721-23delinsTC | NP_001073986.1:n.3721-24_3721-23delinsTC | |
| NM_001292043.1:c.3427-24_3427-23delinsTC | NP_001278972.1:n.3427-24_3427-23delinsTC | |
| XM_005265301.1:c.3778-24_3778-23delinsTC | XP_005265358.1:n.3778-24_3778-23delinsTC | |
| XM_005265303.1:c.3721-24_3721-23delinsTC | XP_005265360.1:n.3721-24_3721-23delinsTC | |
| XM_011533920.1:c.3895-24_3895-23delinsTC | XP_011532222.1:n.3895-24_3895-23delinsTC | |
| XM_011533921.1:c.3895-24_3895-23delinsTC | XP_011532223.1:n.3895-24_3895-23delinsTC | |
| XM_011533922.1:c.3874-24_3874-23delinsTC | XP_011532224.1:n.3874-24_3874-23delinsTC | |
| XM_011533923.1:c.3874-24_3874-23delinsTC | XP_011532225.1:n.3874-24_3874-23delinsTC | |
| XM_011533924.1:c.3874-24_3874-23delinsTC | XP_011532226.1:n.3874-24_3874-23delinsTC | |
| XM_011533925.1:c.3856-24_3856-23delinsTC | XP_011532227.1:n.3856-24_3856-23delinsTC | |
| XM_011533926.1:c.3838-24_3838-23delinsTC | XP_011532228.1:n.3838-24_3838-23delinsTC | |
| XM_011533927.1:c.3838-24_3838-23delinsTC | XP_011532229.1:n.3838-24_3838-23delinsTC | |
| XM_011533928.1:c.3817-24_3817-23delinsTC | XP_011532230.1:n.3817-24_3817-23delinsTC | |
| XM_011533929.1:c.3799-24_3799-23delinsTC | XP_011532231.1:n.3799-24_3799-23delinsTC | |
| XM_011533930.1:c.3760-24_3760-23delinsTC | XP_011532232.1:n.3760-24_3760-23delinsTC | |
| XM_011533931.1:c.3484-24_3484-23delinsTC | XP_011532233.1:n.3484-24_3484-23delinsTC | |
| XM_011533932.1:c.3445-24_3445-23delinsTC | XP_011532234.1:n.3445-24_3445-23delinsTC | |
| XM_011533933.1:c.3445-24_3445-23delinsTC | XP_011532235.1:n.3445-24_3445-23delinsTC | |
| XM_011533934.1:c.*136_*137delinsTC | XP_011532236.1:n.*136_*137delinsTC | |
| NM_001349451.1:c.3427-24_3427-23delinsTC | NP_001336380.1:n.3427-24_3427-23delinsTC | |
| XM_011533921.2:c.3895-24_3895-23delinsTC | XP_011532223.1:n.3895-24_3895-23delinsTC | |
| XM_017006767.1:c.3895-24_3895-23delinsTC | XP_016862256.1:n.3895-24_3895-23delinsTC | |
| XM_017006768.2:c.3874-24_3874-23delinsTC | XP_016862257.1:n.3874-24_3874-23delinsTC | |
| XM_017006770.1:c.3838-24_3838-23delinsTC | XP_016862259.1:n.3838-24_3838-23delinsTC | |
| XM_017006771.1:c.3835-24_3835-23delinsTC | XP_016862260.1:n.3835-24_3835-23delinsTC | |
| XM_017006772.1:c.3799-24_3799-23delinsTC | XP_016862261.1:n.3799-24_3799-23delinsTC | |
| XM_017006773.1:c.3799-24_3799-23delinsTC | XP_016862262.1:n.3799-24_3799-23delinsTC | |
| XM_017006774.1:c.3778-24_3778-23delinsTC | XP_016862263.1:n.3778-24_3778-23delinsTC | |
| XM_017006775.1:c.3742-24_3742-23delinsTC | XP_016862264.1:n.3742-24_3742-23delinsTC | |
| XM_017006776.1:c.3484-24_3484-23delinsTC | XP_016862265.1:n.3484-24_3484-23delinsTC | |
| XM_017006777.1:c.3484-24_3484-23delinsTC | XP_016862266.1:n.3484-24_3484-23delinsTC | |
| XM_017006778.1:c.3484-24_3484-23delinsTC | XP_016862267.1:n.3484-24_3484-23delinsTC | |
| XM_017006779.1:c.3445-24_3445-23delinsTC | XP_016862268.1:n.3445-24_3445-23delinsTC | |
| XM_017006780.1:c.3445-24_3445-23delinsTC | XP_016862269.1:n.3445-24_3445-23delinsTC | |
| XM_017006782.1:c.*136_*137delinsTC | XP_016862271.1:n.*136_*137delinsTC | |
| XM_017006783.1:c.3217-24_3217-23delinsTC | XP_016862272.1:n.3217-24_3217-23delinsTC | |
| XM_024453620.1:c.3856-24_3856-23delinsTC | XP_024309388.1:n.3856-24_3856-23delinsTC | |
| XM_024453621.1:c.3532-24_3532-23delinsTC | XP_024309389.1:n.3532-24_3532-23delinsTC | |
| XR_001740195.2:n.8104-24_8104-23delinsTC | ||
| NM_001080517.3:c.3721-24_3721-23delinsTC MANE Select | NP_001073986.1:n.3721-24_3721-23delinsTC | |
| NM_001292043.2:c.3427-24_3427-23delinsTC | NP_001278972.1:n.3427-24_3427-23delinsTC | |
| NM_001349451.2:c.3427-24_3427-23delinsTC | NP_001336380.1:n.3427-24_3427-23delinsTC |