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.2088235dup , CM000678.2:g.2088235dup | GRCh38 |
| NC_000016.9:g.2138236dup , CM000678.1:g.2138236dup | GRCh37 |
| NC_000016.8:g.2078237dup | NCBI36 |
| NG_005895.1:g.43930dup , LRG_487:g.43930dup | |
| NG_008617.1:g.54986dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3518dup | ENSP00000455997.2:n.*3518dup | |
| ENST00000642206.2:c.5016dup | ENSP00000495146.2:p.Gln1673ThrfsTer5 | |
| ENST00000642365.2:c.5166dup | ENSP00000495459.2:p.Gln1723ThrfsTer5 | |
| ENST00000644417.2:c.*5682dup | ENSP00000493912.2:n.*5682dup | |
| ENST00000646464.2:c.*7918dup | ENSP00000496610.2:n.*7918dup | |
| ENST00000219476.9:c.5169dup MANE Select | ENSP00000219476.3:p.Gln1724ThrfsTer5 | |
| ENST00000350773.9:c.5100dup | ENSP00000344383.4:p.Gln1701ThrfsTer5 | |
| ENST00000401874.7:c.4968dup | ENSP00000384468.2:p.Gln1657ThrfsTer5 | |
| ENST00000568454.6:c.5001dup | ENSP00000454487.1:p.Gln1668ThrfsTer5 | |
| ENST00000569110.2:c.1392dup | ||
| ENST00000569930.2:n.3051dup | ||
| ENST00000642365.1:c.3823dup | ||
| ENST00000642561.1:c.5032-4dup | ENSP00000495099.1:n.5032-4dup | |
| ENST00000642791.1:n.766dup | ||
| ENST00000642797.1:c.4971dup | ENSP00000493846.1:p.Gln1658ThrfsTer5 | |
| ENST00000642936.1:c.5037dup | ENSP00000494514.1:p.Gln1680ThrfsTer5 | |
| ENST00000643088.1:c.4962dup | ENSP00000494747.1:p.Gln1655ThrfsTer5 | |
| ENST00000643426.1:n.2817dup | ||
| ENST00000643946.1:c.5094dup | ENSP00000495927.1:p.Gln1699ThrfsTer5 | |
| ENST00000644043.1:c.5040dup | ENSP00000496262.1:p.Gln1681ThrfsTer5 | |
| ENST00000644329.1:c.5055dup | ENSP00000496611.1:p.Gln1686ThrfsTer5 | |
| ENST00000644335.1:c.4965dup | ENSP00000496317.1:p.Gln1656ThrfsTer5 | |
| ENST00000644399.1:c.5090dup | ||
| ENST00000645024.1:n.3253dup | ||
| ENST00000646388.1:c.5163dup | ENSP00000495921.1:p.Gln1722ThrfsTer5 | |
| ENST00000646634.1:n.3984dup | ||
| ENST00000646674.1:n.2421dup | ||
| ENST00000647042.1:n.2392dup | ||
| ENST00000647180.1:n.2282dup | ||
| ENST00000219476.7:c.5169dup | ENSP00000219476.3:p.Gln1724ThrfsTer5 | |
| ENST00000350773.8:c.5100dup | ENSP00000344383.4:p.Gln1701ThrfsTer5 | |
| ENST00000382538.10:c.4824dup | ENSP00000371978.6:p.Gln1609ThrfsTer5 | |
| ENST00000401874.6:c.4968dup | ENSP00000384468.2:p.Gln1657ThrfsTer5 | |
| ENST00000439117.6:c.*4336dup | ENSP00000406980.2:n.*4336dup | |
| ENST00000439673.6:c.4860dup | ENSP00000399232.2:p.Gln1621ThrfsTer5 | |
| ENST00000497886.5:n.2892dup | ||
| ENST00000568454.5:c.5001dup | ENSP00000454487.1:p.Gln1668ThrfsTer5 | |
| ENST00000569110.1:c.1351dup | ||
| ENST00000569930.1:n.2284dup | ||
| NM_000548.3:c.5169dup , LRG_487t1:c.5169dup | NP_000539.2:p.Gln1724ThrfsTer5 | |
| NM_001077183.1:c.4968dup | NP_001070651.1:p.Gln1657ThrfsTer5 | |
| NM_001114382.1:c.5100dup | NP_001107854.1:p.Gln1701ThrfsTer5 | |
| XM_005255529.3:c.5040dup | XP_005255586.2:p.Gln1681ThrfsTer5 | |
| XM_005255531.3:c.4971dup | XP_005255588.2:p.Gln1658ThrfsTer5 | |
| XM_011522636.1:c.5223dup | XP_011520938.1:p.Gln1742ThrfsTer5 | |
| XM_011522637.1:c.5220dup | XP_011520939.1:p.Gln1741ThrfsTer5 | |
| XM_011522638.1:c.5112dup | XP_011520940.1:p.Gln1705ThrfsTer5 | |
| XM_011522639.1:c.5094dup | XP_011520941.1:p.Gln1699ThrfsTer5 | |
| XM_011522640.1:c.5091dup | XP_011520942.1:p.Gln1698ThrfsTer5 | |
| XM_011522641.1:c.4860dup | XP_011520943.1:p.Gln1621ThrfsTer5 | |
| NM_000548.4:c.5169dup | NP_000539.2:p.Gln1724ThrfsTer5 | |
| NM_001077183.2:c.4968dup | NP_001070651.1:p.Gln1657ThrfsTer5 | |
| NM_001114382.2:c.5100dup | NP_001107854.1:p.Gln1701ThrfsTer5 | |
| NM_001318827.1:c.4860dup | NP_001305756.1:p.Gln1621ThrfsTer5 | |
| NM_001318829.1:c.4824dup | NP_001305758.1:p.Gln1609ThrfsTer5 | |
| NM_001318831.1:c.4437dup | NP_001305760.1:p.Gln1480ThrfsTer5 | |
| NM_001318832.1:c.5001dup | NP_001305761.1:p.Gln1668ThrfsTer5 | |
| NM_001363528.1:c.4971dup | NP_001350457.1:p.Gln1658ThrfsTer5 | |
| NM_021055.2:c.5040dup | NP_066399.2:p.Gln1681ThrfsTer5 | |
| XM_005255531.4:c.4971dup | XP_005255588.2:p.Gln1658ThrfsTer5 | |
| XM_011522636.2:c.5223dup | XP_011520938.1:p.Gln1742ThrfsTer5 | |
| XM_011522637.2:c.5220dup | XP_011520939.1:p.Gln1741ThrfsTer5 | |
| XM_011522638.2:c.5385dup | XP_011520940.2:p.Gln1796ThrfsTer5 | |
| XM_011522639.2:c.5094dup | XP_011520941.1:p.Gln1699ThrfsTer5 | |
| XM_011522640.2:c.5091dup | XP_011520942.1:p.Gln1698ThrfsTer5 | |
| XM_017023615.1:c.5166dup | XP_016879104.1:p.Gln1723ThrfsTer5 | |
| XM_017023616.1:c.5037dup | XP_016879105.1:p.Gln1680ThrfsTer5 | |
| XM_017023617.1:c.5133dup | XP_016879106.1:p.Gln1712ThrfsTer5 | |
| XM_017023618.1:c.3879dup | XP_016879107.1:p.Gln1294ThrfsTer5 | |
| XM_024450413.1:c.5055dup | XP_024306181.1:p.Gln1686ThrfsTer5 | |
| NM_000548.5:c.5169dup MANE Select | NP_000539.2:p.Gln1724ThrfsTer5 | |
| NM_001370404.1:c.5037dup | NP_001357333.1:p.Gln1680ThrfsTer5 | |
| NM_001370405.1:c.5032-4dup | NP_001357334.1:n.5032-4dup | |
| NM_001077183.3:c.4968dup | NP_001070651.1:p.Gln1657ThrfsTer5 | |
| NM_001114382.3:c.5100dup | NP_001107854.1:p.Gln1701ThrfsTer5 | |
| NM_001318827.2:c.4860dup | NP_001305756.1:p.Gln1621ThrfsTer5 | |
| NM_001318829.2:c.4824dup | NP_001305758.1:p.Gln1609ThrfsTer5 | |
| NM_001318831.2:c.4437dup | NP_001305760.1:p.Gln1480ThrfsTer5 | |
| NM_001318832.2:c.5001dup | NP_001305761.1:p.Gln1668ThrfsTer5 | |
| NM_001363528.2:c.4971dup | NP_001350457.1:p.Gln1658ThrfsTer5 | |
| NM_021055.3:c.5040dup | NP_066399.2:p.Gln1681ThrfsTer5 |