WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11041254_11041255del , CM000681.2:g.11041254_11041255del | GRCh38 |
| NC_000019.9:g.11151930_11151931del , CM000681.1:g.11151930_11151931del | GRCh37 |
| NC_000019.8:g.11012930_11012931del | NCBI36 |
| NG_011556.2:g.85333_85334del | |
| NG_011556.3:g.85323_85324del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711079.1:c.4267-53_4267-52del | ENSP00000518564.1:n.4267-53_4267-52del | |
| ENST00000704344.1:c.4171-53_4171-52del | ENSP00000515855.1:n.4171-53_4171-52del | |
| ENST00000646693.2:c.4267-53_4267-52del MANE Plus Clinical | ENSP00000495368.1:n.4267-53_4267-52del | |
| ENST00000344626.10:c.4171-53_4171-52del MANE Select | ENSP00000343896.4:n.4171-53_4171-52del | |
| ENST00000429416.8:c.4171-53_4171-52del | ENSP00000395654.1:n.4171-53_4171-52del | |
| ENST00000444061.8:c.4072-53_4072-52del | ENSP00000392837.2:n.4072-53_4072-52del | |
| ENST00000538456.4:c.329-44_329-43del | ||
| ENST00000586985.2:c.298-53_298-52del | ENSP00000467796.2:n.298-53_298-52del | |
| ENST00000590574.6:c.4072-53_4072-52del | ENSP00000466963.1:n.4072-53_4072-52del | |
| ENST00000592158.2:c.112-53_112-52del | ENSP00000467200.2:n.112-53_112-52del | |
| ENST00000592604.6:n.2403-44_2403-43del | ||
| ENST00000642350.1:c.2656-44_2656-43del | ENSP00000495355.1:n.2656-44_2656-43del | |
| ENST00000642508.1:c.1628-53_1628-52del | ||
| ENST00000642628.1:c.4168-53_4168-52del | ENSP00000496498.1:n.4168-53_4168-52del | |
| ENST00000642726.1:c.4168-53_4168-52del | ENSP00000494353.1:n.4168-53_4168-52del | |
| ENST00000643208.1:c.2728-53_2728-52del | ENSP00000496074.1:n.2728-53_2728-52del | |
| ENST00000643296.1:c.4072-44_4072-43del | ENSP00000496635.1:n.4072-44_4072-43del | |
| ENST00000643534.1:c.2456-53_2456-52del | ||
| ENST00000643549.1:c.4168-44_4168-43del | ENSP00000493975.1:n.4168-44_4168-43del | |
| ENST00000643857.1:c.2526-44_2526-43del | ||
| ENST00000643929.1:n.611_612del | ||
| ENST00000643995.1:c.3585-44_3585-43del | ||
| ENST00000644065.1:c.2799-44_2799-43del | ||
| ENST00000644327.1:c.2843-53_2843-52del | ||
| ENST00000644737.1:c.4072-44_4072-43del | ENSP00000495548.1:n.4072-44_4072-43del | |
| ENST00000644963.1:c.2816-44_2816-43del | ||
| ENST00000645061.1:c.2659-53_2659-52del | ENSP00000493690.1:n.2659-53_2659-52del | |
| ENST00000645236.1:c.720-53_720-52del | ||
| ENST00000645460.1:c.4072-53_4072-52del | ENSP00000494463.1:n.4072-53_4072-52del | |
| ENST00000645648.1:c.2082-53_2082-52del | ENSP00000493521.1:n.2082-53_2082-52del | |
| ENST00000646183.1:c.2514-53_2514-52del | ||
| ENST00000646484.1:c.4072-53_4072-52del | ENSP00000495536.1:n.4072-53_4072-52del | |
| ENST00000646510.1:c.4072-53_4072-52del | ENSP00000494772.1:n.4072-53_4072-52del | |
| ENST00000646593.1:c.2019-53_2019-52del | ENSP00000494341.1:n.2019-53_2019-52del | |
| ENST00000646693.1:c.4267-53_4267-52del | ENSP00000495368.1:n.4267-53_4267-52del | |
| ENST00000646746.1:c.2471-53_2471-52del | ||
| ENST00000646889.1:n.621_622del | ||
| ENST00000647230.1:c.4072-53_4072-52del | ENSP00000494676.1:n.4072-53_4072-52del | |
| ENST00000647268.1:c.2425-53_2425-52del | ENSP00000496176.1:n.2425-53_2425-52del | |
| ENST00000344626.8:c.4171-53_4171-52del | ENSP00000343896.4:n.4171-53_4171-52del | |
| ENST00000413806.7:c.4264-44_4264-43del | ENSP00000414727.3:n.4264-44_4264-43del | |
| ENST00000429416.7:c.4171-53_4171-52del | ENSP00000395654.1:n.4171-53_4171-52del | |
| ENST00000444061.7:c.4072-53_4072-52del | ENSP00000392837.2:n.4072-53_4072-52del | |
| ENST00000450717.7:c.4267-53_4267-52del | ENSP00000397783.3:n.4267-53_4267-52del | |
| ENST00000538456.3:n.476-44_476-43del | ||
| ENST00000541122.6:c.4072-44_4072-43del | ENSP00000445036.2:n.4072-44_4072-43del | |
| ENST00000585799.5:n.2600-44_2600-43del | ||
| ENST00000589677.5:c.4072-44_4072-43del | ENSP00000464778.1:n.4072-44_4072-43del | |
| ENST00000590574.5:c.4072-53_4072-52del | ENSP00000466963.1:n.4072-53_4072-52del | |
| ENST00000591595.5:n.2144-53_2144-52del | ||
| ENST00000592158.1:c.241-44_241-43del | ENSP00000467200.1:n.241-44_241-43del | |
| ENST00000592604.5:n.1985-44_1985-43del | ||
| NM_001128844.1:c.4171-53_4171-52del | NP_001122316.1:n.4171-53_4171-52del | |
| NM_001128845.1:c.4072-44_4072-43del | NP_001122317.1:n.4072-44_4072-43del | |
| NM_001128846.1:c.4072-44_4072-43del | NP_001122318.1:n.4072-44_4072-43del | |
| NM_001128847.1:c.4072-53_4072-52del | NP_001122319.1:n.4072-53_4072-52del | |
| NM_001128848.1:c.4072-53_4072-52del | NP_001122320.1:n.4072-53_4072-52del | |
| NM_001128849.1:c.4267-53_4267-52del | NP_001122321.1:n.4267-53_4267-52del | |
| NM_003072.3:c.4171-53_4171-52del | NP_003063.2:n.4171-53_4171-52del | |
| XM_005260028.2:c.4171-44_4171-43del | XP_005260085.1:n.4171-44_4171-43del | |
| XM_005260030.2:c.4168-53_4168-52del | XP_005260087.1:n.4168-53_4168-52del | |
| XM_005260031.2:c.4171-53_4171-52del | XP_005260088.1:n.4171-53_4171-52del | |
| XM_005260032.2:c.4072-44_4072-43del | XP_005260089.1:n.4072-44_4072-43del | |
| XM_005260033.2:c.4072-44_4072-43del | XP_005260090.1:n.4072-44_4072-43del | |
| XM_005260034.2:c.4072-53_4072-52del | XP_005260091.1:n.4072-53_4072-52del | |
| XM_005260035.2:c.4072-53_4072-52del | XP_005260092.1:n.4072-53_4072-52del | |
| XM_006722845.2:c.4267-53_4267-52del | XP_006722908.1:n.4267-53_4267-52del | |
| XM_006722846.2:c.4267-53_4267-52del | XP_006722909.1:n.4267-53_4267-52del | |
| XM_006722847.2:c.4267-53_4267-52del | XP_006722910.1:n.4267-53_4267-52del | |
| XM_011528198.1:c.4267-53_4267-52del | XP_011526500.1:n.4267-53_4267-52del | |
| XM_024451658.1:c.4267-53_4267-52del | XP_024307426.1:n.4267-53_4267-52del | |
| XM_024451659.1:c.4267-53_4267-52del | XP_024307427.1:n.4267-53_4267-52del | |
| XM_024451660.1:c.4171-44_4171-43del | XP_024307428.1:n.4171-44_4171-43del | |
| XM_024451661.1:c.4168-53_4168-52del | XP_024307429.1:n.4168-53_4168-52del | |
| XM_024451662.1:c.4171-53_4171-52del | XP_024307430.1:n.4171-53_4171-52del | |
| XM_024451663.1:c.4168-53_4168-52del | XP_024307431.1:n.4168-53_4168-52del | |
| XM_024451664.1:c.4072-44_4072-43del | XP_024307432.1:n.4072-44_4072-43del | |
| XM_024451665.1:c.4072-44_4072-43del | XP_024307433.1:n.4072-44_4072-43del | |
| XM_024451666.1:c.4072-53_4072-52del | XP_024307434.1:n.4072-53_4072-52del | |
| XM_024451667.1:c.4072-53_4072-52del | XP_024307435.1:n.4072-53_4072-52del | |
| NM_001128844.3:c.4171-53_4171-52del | NP_001122316.1:n.4171-53_4171-52del | |
| NM_001128845.2:c.4072-44_4072-43del | NP_001122317.1:n.4072-44_4072-43del | |
| NM_001128846.2:c.4072-44_4072-43del | NP_001122318.1:n.4072-44_4072-43del | |
| NM_001128847.4:c.4072-53_4072-52del | NP_001122319.1:n.4072-53_4072-52del | |
| NM_001128848.2:c.4072-53_4072-52del | NP_001122320.1:n.4072-53_4072-52del | |
| NM_001128849.3:c.4267-53_4267-52del | NP_001122321.1:n.4267-53_4267-52del | |
| NM_001374457.1:c.4072-53_4072-52del | NP_001361386.1:n.4072-53_4072-52del | |
| NM_003072.5:c.4171-53_4171-52del MANE Select | NP_003063.2:n.4171-53_4171-52del | |
| NR_164683.1:n.4561-53_4561-52del | ||
| NM_001387283.1:c.4267-53_4267-52del MANE Plus Clinical | NP_001374212.1:n.4267-53_4267-52del |