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.2088142G= , CM000678.2:g.2088142G= | GRCh38 |
| NC_000016.9:g.2138143G= , CM000678.1:g.2138143G= | GRCh37 |
| NC_000016.8:g.2078144G= | NCBI36 |
| NG_005895.1:g.43837G= , LRG_487:g.43837G= | |
| NG_008617.1:g.55079C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3509+3G= | ENSP00000455997.2:n.*3509+3G= | |
| ENST00000642206.2:c.5007+3G= | ENSP00000495146.2:n.5007+3G= | |
| ENST00000642365.2:c.5157+3G= | ENSP00000495459.2:n.5157+3G= | |
| ENST00000644417.2:c.*5673+3G= | ENSP00000493912.2:n.*5673+3G= | |
| ENST00000646464.2:c.*7909+3G= | ENSP00000496610.2:n.*7909+3G= | |
| ENST00000219476.9:c.5160+3G= MANE Select | ENSP00000219476.3:n.5160+3G= | |
| ENST00000350773.9:c.5091+3G= | ENSP00000344383.4:n.5091+3G= | |
| ENST00000401874.7:c.4959+3G= | ENSP00000384468.2:n.4959+3G= | |
| ENST00000568454.6:c.4992+3G= | ENSP00000454487.1:n.4992+3G= | |
| ENST00000569110.2:c.1383+3G= | ||
| ENST00000569930.2:n.3042+3G= | ||
| ENST00000642365.1:c.3814+3G= | ||
| ENST00000642561.1:c.5031+3G= | ENSP00000495099.1:n.5031+3G= | |
| ENST00000642791.1:n.757+3G= | ||
| ENST00000642797.1:c.4962+3G= | ENSP00000493846.1:n.4962+3G= | |
| ENST00000642936.1:c.5028+3G= | ENSP00000494514.1:n.5028+3G= | |
| ENST00000643088.1:c.4953+3G= | ENSP00000494747.1:n.4953+3G= | |
| ENST00000643426.1:n.2808+3G= | ||
| ENST00000643946.1:c.5085+3G= | ENSP00000495927.1:n.5085+3G= | |
| ENST00000644043.1:c.5031+3G= | ENSP00000496262.1:n.5031+3G= | |
| ENST00000644329.1:c.4962G= | ENSP00000496611.1:p.Val1654= | |
| ENST00000644335.1:c.4956+3G= | ENSP00000496317.1:n.4956+3G= | |
| ENST00000644399.1:c.5081+3G= | ||
| ENST00000645024.1:n.3244+3G= | ||
| ENST00000646388.1:c.5154+3G= | ENSP00000495921.1:n.5154+3G= | |
| ENST00000646634.1:n.3975+3G= | ||
| ENST00000646674.1:n.2412+3G= | ||
| ENST00000647042.1:n.2383+3G= | ||
| ENST00000647180.1:n.2273+3G= | ||
| ENST00000219476.7:c.5160+3G= | ENSP00000219476.3:n.5160+3G= | |
| ENST00000350773.8:c.5091+3G= | ENSP00000344383.4:n.5091+3G= | |
| ENST00000382538.10:c.4815+3G= | ENSP00000371978.6:n.4815+3G= | |
| ENST00000401874.6:c.4959+3G= | ENSP00000384468.2:n.4959+3G= | |
| ENST00000439117.6:c.*4327+3G= | ENSP00000406980.2:n.*4327+3G= | |
| ENST00000439673.6:c.4851+3G= | ENSP00000399232.2:n.4851+3G= | |
| ENST00000497886.5:n.2883+3G= | ||
| ENST00000568454.5:c.4992+3G= | ENSP00000454487.1:n.4992+3G= | |
| ENST00000569110.1:c.1342+3G= | ||
| ENST00000569930.1:n.2275+3G= | ||
| NM_000548.3:c.5160+3G= , LRG_487t1:c.5160+3G= | NP_000539.2:n.5160+3G= | |
| NM_001077183.1:c.4959+3G= | NP_001070651.1:n.4959+3G= | |
| NM_001114382.1:c.5091+3G= | NP_001107854.1:n.5091+3G= | |
| XM_005255529.3:c.5031+3G= | XP_005255586.2:n.5031+3G= | |
| XM_005255531.3:c.4962+3G= | XP_005255588.2:n.4962+3G= | |
| XM_011522636.1:c.5214+3G= | XP_011520938.1:n.5214+3G= | |
| XM_011522637.1:c.5211+3G= | XP_011520939.1:n.5211+3G= | |
| XM_011522638.1:c.5103+3G= | XP_011520940.1:n.5103+3G= | |
| XM_011522639.1:c.5085+3G= | XP_011520941.1:n.5085+3G= | |
| XM_011522640.1:c.5082+3G= | XP_011520942.1:n.5082+3G= | |
| XM_011522641.1:c.4851+3G= | XP_011520943.1:n.4851+3G= | |
| NM_000548.4:c.5160+3G= | NP_000539.2:n.5160+3G= | |
| NM_001077183.2:c.4959+3G= | NP_001070651.1:n.4959+3G= | |
| NM_001114382.2:c.5091+3G= | NP_001107854.1:n.5091+3G= | |
| NM_001318827.1:c.4851+3G= | NP_001305756.1:n.4851+3G= | |
| NM_001318829.1:c.4815+3G= | NP_001305758.1:n.4815+3G= | |
| NM_001318831.1:c.4428+3G= | NP_001305760.1:n.4428+3G= | |
| NM_001318832.1:c.4992+3G= | NP_001305761.1:n.4992+3G= | |
| NM_001363528.1:c.4962+3G= | NP_001350457.1:n.4962+3G= | |
| NM_021055.2:c.5031+3G= | NP_066399.2:n.5031+3G= | |
| XM_005255531.4:c.4962+3G= | XP_005255588.2:n.4962+3G= | |
| XM_011522636.2:c.5214+3G= | XP_011520938.1:n.5214+3G= | |
| XM_011522637.2:c.5211+3G= | XP_011520939.1:n.5211+3G= | |
| XM_011522638.2:c.5376+3G= | XP_011520940.2:n.5376+3G= | |
| XM_011522639.2:c.5085+3G= | XP_011520941.1:n.5085+3G= | |
| XM_011522640.2:c.5082+3G= | XP_011520942.1:n.5082+3G= | |
| XM_017023615.1:c.5157+3G= | XP_016879104.1:n.5157+3G= | |
| XM_017023616.1:c.5028+3G= | XP_016879105.1:n.5028+3G= | |
| XM_017023617.1:c.5124+3G= | XP_016879106.1:n.5124+3G= | |
| XM_017023618.1:c.3870+3G= | XP_016879107.1:n.3870+3G= | |
| XM_024450413.1:c.4962G= | XP_024306181.1:p.Val1654= | |
| NM_000548.5:c.5160+3G= MANE Select | NP_000539.2:n.5160+3G= | |
| NM_001370404.1:c.5028+3G= | NP_001357333.1:n.5028+3G= | |
| NM_001370405.1:c.5031+3G= | NP_001357334.1:n.5031+3G= | |
| NM_001077183.3:c.4959+3G= | NP_001070651.1:n.4959+3G= | |
| NM_001114382.3:c.5091+3G= | NP_001107854.1:n.5091+3G= | |
| NM_001318827.2:c.4851+3G= | NP_001305756.1:n.4851+3G= | |
| NM_001318829.2:c.4815+3G= | NP_001305758.1:n.4815+3G= | |
| NM_001318831.2:c.4428+3G= | NP_001305760.1:n.4428+3G= | |
| NM_001318832.2:c.4992+3G= | NP_001305761.1:n.4992+3G= | |
| NM_001363528.2:c.4962+3G= | NP_001350457.1:n.4962+3G= | |
| NM_021055.3:c.5031+3G= | NP_066399.2:n.5031+3G= |