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_000016.10:g.2081593_2081594delinsAG , CM000678.2:g.2081593_2081594delinsAG | GRCh38 |
| NC_000016.9:g.2131594_2131595delinsAG , CM000678.1:g.2131594_2131595delinsAG | GRCh37 |
| NC_000016.8:g.2071595_2071596delinsAG | NCBI36 |
| NG_005895.1:g.37288_37289delinsAG , LRG_487:g.37288_37289delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2029-2_*2029-1delinsAG | ENSP00000455997.2:n.*2029-2_*2029-1delins... | |
| ENST00000642206.2:c.3527-2_3527-1delinsAG | ENSP00000495146.2:n.3527-2_3527-1delinsAG... | |
| ENST00000642365.2:c.3608-2_3608-1delinsAG | ENSP00000495459.2:n.3608-2_3608-1delinsAG... | |
| ENST00000644417.2:c.*4060-2_*4060-1delinsAG | ENSP00000493912.2:n.*4060-2_*4060-1delins... | |
| ENST00000646464.2:c.*4533-2_*4533-1delinsAG | ENSP00000496610.2:n.*4533-2_*4533-1delins... | |
| ENST00000219476.9:c.3611-2_3611-1delinsAG MANE Select | ENSP00000219476.3:n.3611-2_3611-1delinsAG... | |
| ENST00000350773.9:c.3611-2_3611-1delinsAG | ENSP00000344383.4:n.3611-2_3611-1delinsAG... | |
| ENST00000401874.7:c.3479-2_3479-1delinsAG | ENSP00000384468.2:n.3479-2_3479-1delinsAG... | |
| ENST00000568454.6:c.3512-2_3512-1delinsAG | ENSP00000454487.1:n.3512-2_3512-1delinsAG... | |
| ENST00000642365.1:c.2265-2_2265-1delinsAG | ||
| ENST00000642561.1:c.3482-2_3482-1delinsAG | ENSP00000495099.1:n.3482-2_3482-1delinsAG... | |
| ENST00000642797.1:c.3482-2_3482-1delinsAG | ENSP00000493846.1:n.3482-2_3482-1delinsAG... | |
| ENST00000642936.1:c.3479-2_3479-1delinsAG | ENSP00000494514.1:n.3479-2_3479-1delinsAG... | |
| ENST00000643088.1:c.3479-2_3479-1delinsAG | ENSP00000494747.1:n.3479-2_3479-1delinsAG... | |
| ENST00000643426.1:n.1257_1258delinsAG | ||
| ENST00000643533.1:n.119_120delinsAG | ||
| ENST00000643946.1:c.3611-2_3611-1delinsAG | ENSP00000495927.1:n.3611-2_3611-1delinsAG... | |
| ENST00000644043.1:c.3482-2_3482-1delinsAG | ENSP00000496262.1:n.3482-2_3482-1delinsAG... | |
| ENST00000644329.1:c.3479-2_3479-1delinsAG | ENSP00000496611.1:n.3479-2_3479-1delinsAG... | |
| ENST00000644335.1:c.3482-2_3482-1delinsAG | ENSP00000496317.1:n.3482-2_3482-1delinsAG... | |
| ENST00000644399.1:c.3601-2_3601-1delinsAG | ||
| ENST00000644722.1:n.757-2_757-1delinsAG | ||
| ENST00000645024.1:n.1764-2_1764-1delinsAG | ||
| ENST00000646388.1:c.3611-2_3611-1delinsAG | ENSP00000495921.1:n.3611-2_3611-1delinsAG... | |
| ENST00000646634.1:n.2495-2_2495-1delinsAG | ||
| ENST00000646674.1:n.226-2_226-1delinsAG | ||
| ENST00000647042.1:n.903-2_903-1delinsAG | ||
| ENST00000647180.1:n.91-2_91-1delinsAG | ||
| ENST00000219476.7:c.3611-2_3611-1delinsAG | ENSP00000219476.3:n.3611-2_3611-1delinsAG... | |
| ENST00000350773.8:c.3611-2_3611-1delinsAG | ENSP00000344383.4:n.3611-2_3611-1delinsAG... | |
| ENST00000382538.10:c.3335-2_3335-1delinsAG | ENSP00000371978.6:n.3335-2_3335-1delinsAG... | |
| ENST00000401874.6:c.3479-2_3479-1delinsAG | ENSP00000384468.2:n.3479-2_3479-1delinsAG... | |
| ENST00000439117.6:c.*2778-2_*2778-1delinsAG | ENSP00000406980.2:n.*2778-2_*2778-1delins... | |
| ENST00000439673.6:c.3371-2_3371-1delinsAG | ENSP00000399232.2:n.3371-2_3371-1delinsAG... | |
| ENST00000497886.5:n.1438-2_1438-1delinsAG | ||
| ENST00000568454.5:c.3512-2_3512-1delinsAG | ENSP00000454487.1:n.3512-2_3512-1delinsAG... | |
| NM_000548.3:c.3611-2_3611-1delinsAG , LRG_487t1:c.3611-2_3611-1delinsAG | NP_000539.2:n.3611-2_3611-1delinsAG | |
| NM_001077183.1:c.3479-2_3479-1delinsAG | NP_001070651.1:n.3479-2_3479-1delinsAG | |
| NM_001114382.1:c.3611-2_3611-1delinsAG | NP_001107854.1:n.3611-2_3611-1delinsAG | |
| XM_005255529.3:c.3482-2_3482-1delinsAG | XP_005255586.2:n.3482-2_3482-1delinsAG | |
| XM_005255531.3:c.3482-2_3482-1delinsAG | XP_005255588.2:n.3482-2_3482-1delinsAG | |
| XM_011522636.1:c.3611-2_3611-1delinsAG | XP_011520938.1:n.3611-2_3611-1delinsAG | |
| XM_011522637.1:c.3608-2_3608-1delinsAG | XP_011520939.1:n.3608-2_3608-1delinsAG | |
| XM_011522638.1:c.3500-2_3500-1delinsAG | XP_011520940.1:n.3500-2_3500-1delinsAG | |
| XM_011522639.1:c.3482-2_3482-1delinsAG | XP_011520941.1:n.3482-2_3482-1delinsAG | |
| XM_011522640.1:c.3479-2_3479-1delinsAG | XP_011520942.1:n.3479-2_3479-1delinsAG | |
| XM_011522641.1:c.3371-2_3371-1delinsAG | XP_011520943.1:n.3371-2_3371-1delinsAG | |
| NM_000548.4:c.3611-2_3611-1delinsAG | NP_000539.2:n.3611-2_3611-1delinsAG | |
| NM_001077183.2:c.3479-2_3479-1delinsAG | NP_001070651.1:n.3479-2_3479-1delinsAG | |
| NM_001114382.2:c.3611-2_3611-1delinsAG | NP_001107854.1:n.3611-2_3611-1delinsAG | |
| NM_001318827.1:c.3371-2_3371-1delinsAG | NP_001305756.1:n.3371-2_3371-1delinsAG | |
| NM_001318829.1:c.3335-2_3335-1delinsAG | NP_001305758.1:n.3335-2_3335-1delinsAG | |
| NM_001318831.1:c.2879-2_2879-1delinsAG | NP_001305760.1:n.2879-2_2879-1delinsAG | |
| NM_001318832.1:c.3512-2_3512-1delinsAG | NP_001305761.1:n.3512-2_3512-1delinsAG | |
| NM_001363528.1:c.3482-2_3482-1delinsAG | NP_001350457.1:n.3482-2_3482-1delinsAG | |
| NM_021055.2:c.3482-2_3482-1delinsAG | NP_066399.2:n.3482-2_3482-1delinsAG | |
| XM_005255531.4:c.3482-2_3482-1delinsAG | XP_005255588.2:n.3482-2_3482-1delinsAG | |
| XM_011522636.2:c.3611-2_3611-1delinsAG | XP_011520938.1:n.3611-2_3611-1delinsAG | |
| XM_011522637.2:c.3608-2_3608-1delinsAG | XP_011520939.1:n.3608-2_3608-1delinsAG | |
| XM_011522638.2:c.3773-2_3773-1delinsAG | XP_011520940.2:n.3773-2_3773-1delinsAG | |
| XM_011522639.2:c.3482-2_3482-1delinsAG | XP_011520941.1:n.3482-2_3482-1delinsAG | |
| XM_011522640.2:c.3479-2_3479-1delinsAG | XP_011520942.1:n.3479-2_3479-1delinsAG | |
| XM_017023615.1:c.3608-2_3608-1delinsAG | XP_016879104.1:n.3608-2_3608-1delinsAG | |
| XM_017023616.1:c.3479-2_3479-1delinsAG | XP_016879105.1:n.3479-2_3479-1delinsAG | |
| XM_017023617.1:c.3644-2_3644-1delinsAG | XP_016879106.1:n.3644-2_3644-1delinsAG | |
| XM_017023618.1:c.2267-2_2267-1delinsAG | XP_016879107.1:n.2267-2_2267-1delinsAG | |
| XM_024450413.1:c.3479-2_3479-1delinsAG | XP_024306181.1:n.3479-2_3479-1delinsAG | |
| NM_000548.5:c.3611-2_3611-1delinsAG MANE Select | NP_000539.2:n.3611-2_3611-1delinsAG | |
| NM_001370404.1:c.3479-2_3479-1delinsAG | NP_001357333.1:n.3479-2_3479-1delinsAG | |
| NM_001370405.1:c.3482-2_3482-1delinsAG | NP_001357334.1:n.3482-2_3482-1delinsAG | |
| NM_001077183.3:c.3479-2_3479-1delinsAG | NP_001070651.1:n.3479-2_3479-1delinsAG | |
| NM_001114382.3:c.3611-2_3611-1delinsAG | NP_001107854.1:n.3611-2_3611-1delinsAG | |
| NM_001318827.2:c.3371-2_3371-1delinsAG | NP_001305756.1:n.3371-2_3371-1delinsAG | |
| NM_001318829.2:c.3335-2_3335-1delinsAG | NP_001305758.1:n.3335-2_3335-1delinsAG | |
| NM_001318831.2:c.2879-2_2879-1delinsAG | NP_001305760.1:n.2879-2_2879-1delinsAG | |
| NM_001318832.2:c.3512-2_3512-1delinsAG | NP_001305761.1:n.3512-2_3512-1delinsAG | |
| NM_001363528.2:c.3482-2_3482-1delinsAG | NP_001350457.1:n.3482-2_3482-1delinsAG | |
| NM_021055.3:c.3482-2_3482-1delinsAG | NP_066399.2:n.3482-2_3482-1delinsAG |