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.2088232_2088233insCTGCACGCAAATGTGAGTGGGGGTGGG , CM000678.2:g.2088232_2088233insCTGCACGCAAATGTGAGTGGGGGTGGG | GRCh38 |
| NC_000016.9:g.2138233_2138234insCTGCACGCAAATGTGAGTGGGGGTGGG , CM000678.1:g.2138233_2138234insCTGCACGCAAATGTGAGTGGGGGTGGG | GRCh37 |
| NC_000016.8:g.2078234_2078235insCTGCACGCAAATGTGAGTGGGGGTGGG | NCBI36 |
| NG_005895.1:g.43927_43928insCTGCACGCAAATGTGAGTGGGGGTGGG , LRG_487:g.43927_43928insCTGCACGCAAATGTGAGTGGGGGTGGG | |
| NG_008617.1:g.54988_54989insCCCACCCCCACTCACATTTGCGTGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3515_*3516insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000455997.2:n.*3515_*3516insCTGCACGCAAATGTGAGTGGGGGTGGG... | |
| ENST00000642206.2:c.5013_5014insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000495146.2:p.Ala1671_Ser1672insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000642365.2:c.5163_5164insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000495459.2:p.Ala1721_Ser1722insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000644417.2:c.*5679_*5680insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000493912.2:n.*5679_*5680insCTGCACGCAAATGTGAGTGGGGGTGGG... | |
| ENST00000646464.2:c.*7915_*7916insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000496610.2:n.*7915_*7916insCTGCACGCAAATGTGAGTGGGGGTGGG... | |
| ENST00000219476.9:c.5166_5167insCTGCACGCAAATGTGAGTGGGGGTGGG MANE Select | ENSP00000219476.3:p.Ala1722_Ser1723insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000350773.9:c.5097_5098insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000344383.4:p.Ala1699_Ser1700insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000401874.7:c.4965_4966insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000384468.2:p.Ala1655_Ser1656insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000568454.6:c.4998_4999insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000454487.1:p.Ala1666_Ser1667insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000569110.2:c.1389_1390insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000569930.2:n.3048_3049insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000642365.1:c.3820_3821insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000642561.1:c.5032-7_5032-6insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000495099.1:n.5032-7_5032-6insCTGCACGCAAATGTGAGTGGGGGTG... | |
| ENST00000642791.1:n.763_764insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000642797.1:c.4968_4969insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000493846.1:p.Ala1656_Ser1657insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000642936.1:c.5034_5035insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000494514.1:p.Ala1678_Ser1679insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000643088.1:c.4959_4960insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000494747.1:p.Ala1653_Ser1654insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000643426.1:n.2814_2815insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000643946.1:c.5091_5092insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000495927.1:p.Ala1697_Ser1698insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000644043.1:c.5037_5038insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000496262.1:p.Ala1679_Ser1680insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000644329.1:c.5052_5053insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000496611.1:p.Ala1684_Ser1685insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000644335.1:c.4962_4963insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000496317.1:p.Ala1654_Ser1655insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000644399.1:c.5087_5088insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000645024.1:n.3250_3251insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000646388.1:c.5160_5161insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000495921.1:p.Ala1720_Ser1721insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000646634.1:n.3981_3982insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000646674.1:n.2418_2419insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000647042.1:n.2389_2390insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000647180.1:n.2279_2280insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000219476.7:c.5166_5167insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000219476.3:p.Ala1722_Ser1723insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000350773.8:c.5097_5098insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000344383.4:p.Ala1699_Ser1700insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000382538.10:c.4821_4822insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000371978.6:p.Ala1607_Ser1608insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000401874.6:c.4965_4966insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000384468.2:p.Ala1655_Ser1656insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000439117.6:c.*4333_*4334insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000406980.2:n.*4333_*4334insCTGCACGCAAATGTGAGTGGGGGTGGG... | |
| ENST00000439673.6:c.4857_4858insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000399232.2:p.Ala1619_Ser1620insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000497886.5:n.2889_2890insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000568454.5:c.4998_4999insCTGCACGCAAATGTGAGTGGGGGTGGG | ENSP00000454487.1:p.Ala1666_Ser1667insLeuHisAlaAsnValSerGlyGl... | |
| ENST00000569110.1:c.1348_1349insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| ENST00000569930.1:n.2281_2282insCTGCACGCAAATGTGAGTGGGGGTGGG | ||
| NM_000548.3:c.5166_5167insCTGCACGCAAATGTGAGTGGGGGTGGG , LRG_487t1:c.5166_5167insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_000539.2:p.Ala1722_Ser1723insLeuHisAlaAsnValSerGlyGlyGly | |
| NM_001077183.1:c.4965_4966insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001070651.1:p.Ala1655_Ser1656insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001114382.1:c.5097_5098insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001107854.1:p.Ala1699_Ser1700insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_005255529.3:c.5037_5038insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_005255586.2:p.Ala1679_Ser1680insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_005255531.3:c.4968_4969insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_005255588.2:p.Ala1656_Ser1657insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522636.1:c.5220_5221insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520938.1:p.Ala1740_Ser1741insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522637.1:c.5217_5218insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520939.1:p.Ala1739_Ser1740insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522638.1:c.5109_5110insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520940.1:p.Ala1703_Ser1704insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522639.1:c.5091_5092insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520941.1:p.Ala1697_Ser1698insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522640.1:c.5088_5089insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520942.1:p.Ala1696_Ser1697insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522641.1:c.4857_4858insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520943.1:p.Ala1619_Ser1620insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_000548.4:c.5166_5167insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_000539.2:p.Ala1722_Ser1723insLeuHisAlaAsnValSerGlyGlyGly | |
| NM_001077183.2:c.4965_4966insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001070651.1:p.Ala1655_Ser1656insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001114382.2:c.5097_5098insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001107854.1:p.Ala1699_Ser1700insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318827.1:c.4857_4858insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305756.1:p.Ala1619_Ser1620insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318829.1:c.4821_4822insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305758.1:p.Ala1607_Ser1608insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318831.1:c.4434_4435insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305760.1:p.Ala1478_Ser1479insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318832.1:c.4998_4999insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305761.1:p.Ala1666_Ser1667insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001363528.1:c.4968_4969insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001350457.1:p.Ala1656_Ser1657insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_021055.2:c.5037_5038insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_066399.2:p.Ala1679_Ser1680insLeuHisAlaAsnValSerGlyGlyGly | |
| XM_005255531.4:c.4968_4969insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_005255588.2:p.Ala1656_Ser1657insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522636.2:c.5220_5221insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520938.1:p.Ala1740_Ser1741insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522637.2:c.5217_5218insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520939.1:p.Ala1739_Ser1740insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522638.2:c.5382_5383insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520940.2:p.Ala1794_Ser1795insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522639.2:c.5091_5092insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520941.1:p.Ala1697_Ser1698insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_011522640.2:c.5088_5089insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_011520942.1:p.Ala1696_Ser1697insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_017023615.1:c.5163_5164insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_016879104.1:p.Ala1721_Ser1722insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_017023616.1:c.5034_5035insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_016879105.1:p.Ala1678_Ser1679insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_017023617.1:c.5130_5131insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_016879106.1:p.Ala1710_Ser1711insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_017023618.1:c.3876_3877insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_016879107.1:p.Ala1292_Ser1293insLeuHisAlaAsnValSerGlyGlyGl... | |
| XM_024450413.1:c.5052_5053insCTGCACGCAAATGTGAGTGGGGGTGGG | XP_024306181.1:p.Ala1684_Ser1685insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_000548.5:c.5166_5167insCTGCACGCAAATGTGAGTGGGGGTGGG MANE Select | NP_000539.2:p.Ala1722_Ser1723insLeuHisAlaAsnValSerGlyGlyGly | |
| NM_001370404.1:c.5034_5035insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001357333.1:p.Ala1678_Ser1679insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001370405.1:c.5032-7_5032-6insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001357334.1:n.5032-7_5032-6insCTGCACGCAAATGTGAGTGGGGGTGGG | |
| NM_001077183.3:c.4965_4966insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001070651.1:p.Ala1655_Ser1656insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001114382.3:c.5097_5098insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001107854.1:p.Ala1699_Ser1700insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318827.2:c.4857_4858insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305756.1:p.Ala1619_Ser1620insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318829.2:c.4821_4822insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305758.1:p.Ala1607_Ser1608insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318831.2:c.4434_4435insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305760.1:p.Ala1478_Ser1479insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001318832.2:c.4998_4999insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001305761.1:p.Ala1666_Ser1667insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_001363528.2:c.4968_4969insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_001350457.1:p.Ala1656_Ser1657insLeuHisAlaAsnValSerGlyGlyGl... | |
| NM_021055.3:c.5037_5038insCTGCACGCAAATGTGAGTGGGGGTGGG | NP_066399.2:p.Ala1679_Ser1680insLeuHisAlaAsnValSerGlyGlyGly |