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_000015.10:g.42410369C= , CM000677.2:g.42410369C= | GRCh38 |
| NC_000015.9:g.42702567C= , CM000677.1:g.42702567C= | GRCh37 |
| NC_000015.8:g.40489859C= | NCBI36 |
| NG_008660.1:g.67267C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337571.9:c.121-59C= | ENSP00000336840.4:n.121-59C= | |
| ENST00000349748.8:c.1840-59C= | ENSP00000183936.4:n.1840-59C= | |
| ENST00000357568.8:c.2098-59C= | ENSP00000350181.3:n.2098-59C= | |
| ENST00000397163.8:c.2116-59C= MANE Select | ENSP00000380349.3:n.2116-59C= | |
| ENST00000397204.9:c.121-59C= | ENSP00000380387.4:n.121-59C= | |
| ENST00000466222.7:n.381-59C= | ||
| ENST00000466369.5:n.2607-59C= | ||
| ENST00000495723.1:n.2987-59C= | ||
| ENST00000549793.5:n.2329-59C= | ||
| ENST00000562199.2:c.124-63C= | ENSP00000501034.1:n.124-63C= | |
| ENST00000569136.6:c.121-59C= | ENSP00000455254.1:n.121-59C= | |
| ENST00000638141.2:n.1855-59C= | ||
| ENST00000673646.1:c.680-59C= | ENSP00000501007.1:n.680-59C= | |
| ENST00000673684.1:n.39C= | ||
| ENST00000673687.1:n.566C= | ||
| ENST00000673692.1:c.121-59C= | ENSP00000501138.1:n.121-59C= | |
| ENST00000673705.1:c.511-219C= | ENSP00000501021.1:n.511-219C= | |
| ENST00000673743.1:c.19-59C= | ENSP00000500989.1:n.19-59C= | |
| ENST00000673750.1:c.121-59C= | ENSP00000501173.1:n.121-59C= | |
| ENST00000673771.1:c.121-59C= | ENSP00000501023.1:n.121-59C= | |
| ENST00000673774.1:n.1190C= | ||
| ENST00000673839.1:c.121-59C= | ENSP00000501188.1:n.121-59C= | |
| ENST00000673851.1:c.121-59C= | ENSP00000501142.1:n.121-59C= | |
| ENST00000673854.1:n.5538-59C= | ||
| ENST00000673886.1:c.121-59C= | ENSP00000501155.1:n.121-59C= | |
| ENST00000673890.1:c.121-59C= | ENSP00000501293.1:n.121-59C= | |
| ENST00000673893.1:c.319-59C= | ENSP00000500987.1:n.319-59C= | |
| ENST00000673928.1:c.121-59C= | ENSP00000501099.1:n.121-59C= | |
| ENST00000673936.1:c.121-59C= | ENSP00000501189.1:n.121-59C= | |
| ENST00000673939.1:c.121-59C= | ENSP00000501129.1:n.121-59C= | |
| ENST00000673950.1:n.390-59C= | ||
| ENST00000673978.1:c.259-59C= | ENSP00000500976.1:n.259-59C= | |
| ENST00000673987.1:c.121-59C= | ENSP00000501231.1:n.121-59C= | |
| ENST00000674011.1:c.121-59C= | ENSP00000501171.1:n.121-59C= | |
| ENST00000674018.1:c.121-59C= | ENSP00000501271.1:n.121-59C= | |
| ENST00000674027.1:n.176-59C= | ||
| ENST00000674041.1:c.121-59C= | ENSP00000500956.1:n.121-59C= | |
| ENST00000674052.1:c.340-59C= | ENSP00000501057.1:n.340-59C= | |
| ENST00000674093.1:c.121-59C= | ENSP00000501303.1:n.121-59C= | |
| ENST00000674119.1:c.121-59C= | ENSP00000501217.1:n.121-59C= | |
| ENST00000674135.1:c.298-59C= | ENSP00000501178.1:n.298-59C= | |
| ENST00000674139.1:c.121-59C= | ENSP00000501054.1:n.121-59C= | |
| ENST00000674146.1:c.121-59C= | ENSP00000501175.1:n.121-59C= | |
| ENST00000674149.1:c.121-59C= | ENSP00000501112.1:n.121-59C= | |
| ENST00000318023.11:c.1972-59C= | ENSP00000326281.8:n.1972-59C= | |
| ENST00000337571.8:c.121-59C= | ENSP00000336840.4:n.121-59C= | |
| ENST00000349748.7:c.1840-59C= | ENSP00000183936.4:n.1840-59C= | |
| ENST00000356316.7:c.121-59C= | ENSP00000348667.4:n.121-59C= | |
| ENST00000357568.7:c.2098-59C= | ENSP00000350181.3:n.2098-59C= | |
| ENST00000397163.7:c.2116-59C= | ENSP00000380349.3:n.2116-59C= | |
| ENST00000397200.8:c.580-59C= | ENSP00000380384.4:n.580-59C= | |
| ENST00000397204.8:c.121-59C= | ENSP00000380387.4:n.121-59C= | |
| ENST00000466222.6:n.1039-59C= | ||
| ENST00000561817.5:c.121-59C= | ENSP00000456575.1:n.121-59C= | |
| ENST00000562199.1:n.124-63C= | ||
| ENST00000564503.5:c.213-59C= | ||
| ENST00000565274.5:c.328-39C= | ENSP00000457759.1:n.328-39C= | |
| ENST00000565559.5:c.298-59C= | ENSP00000457878.1:n.298-59C= | |
| ENST00000569136.5:c.121-59C= | ENSP00000455254.1:n.121-59C= | |
| ENST00000569827.5:c.448-59C= | ENSP00000454379.1:n.448-59C= | |
| NM_000070.2:c.2116-59C= | NP_000061.1:n.2116-59C= | |
| NM_024344.1:c.2098-59C= | NP_077320.1:n.2098-59C= | |
| NM_173087.1:c.1840-59C= | NP_775110.1:n.1840-59C= | |
| NM_173088.1:c.580-59C= | NP_775111.1:n.580-59C= | |
| NM_173089.1:c.121-59C= | NP_775112.1:n.121-59C= | |
| NM_173090.1:c.121-59C= | NP_775113.1:n.121-59C= | |
| NM_000070.3:c.2116-59C= MANE Select | NP_000061.1:n.2116-59C= | |
| NM_024344.2:c.2098-59C= | NP_077320.1:n.2098-59C= | |
| NM_173087.2:c.1840-59C= | NP_775110.1:n.1840-59C= | |
| NM_173088.2:c.580-59C= | NP_775111.1:n.580-59C= | |
| NM_173089.2:c.121-59C= | NP_775112.1:n.121-59C= | |
| NM_173090.2:c.121-59C= | NP_775113.1:n.121-59C= |