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_000017.11:g.43091850_43091851insCCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGT , CM000679.2:g.43091850_43091851insCCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGT | GRCh38 |
| NC_000017.10:g.41243867_41243868insCCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGT , CM000679.1:g.41243867_41243868insCCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGT | GRCh37 |
| NC_000017.9:g.38497393_38497394insCCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGT | NCBI36 |
| NG_005905.2:g.126182_126183insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG , LRG_292:g.126182_126183insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3793_3794insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ||
| ENST00000461574.2:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000417241.2:p.His1244AspfsTer8 | |
| ENST00000470026.6:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000419274.2:p.His1244AspfsTer8 | |
| ENST00000473961.6:c.3603_3604insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000420201.2:p.His1202AspfsTer8 | |
| ENST00000476777.6:c.3726_3727insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000417554.2:p.His1243AspfsTer8 | |
| ENST00000477152.6:c.3651_3652insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000419988.2:p.His1218AspfsTer8 | |
| ENST00000478531.6:c.785-770_785-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000420412.2:n.785-770_785-769insGAC... | |
| ENST00000489037.2:c.3651_3652insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000420781.2:p.His1218AspfsTer8 | |
| ENST00000493919.6:c.647-770_647-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418819.2:n.647-770_647-769insGAC... | |
| ENST00000494123.6:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000419103.2:p.His1244AspfsTer8 | |
| ENST00000497488.2:c.2841_2842insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418986.2:p.His948AspfsTer8 | |
| ENST00000618469.2:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000478114.2:p.His1244AspfsTer8 | |
| ENST00000634433.2:c.3606_3607insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000489431.2:p.His1203AspfsTer8 | |
| ENST00000644379.2:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000496570.2:p.His1244AspfsTer8 | |
| ENST00000644555.2:c.647-770_647-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000494614.2:n.647-770_647-769insGAC... | |
| ENST00000652672.2:c.3588_3589insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000498906.2:p.His1197AspfsTer8 | |
| ENST00000484087.6:c.665-770_665-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000419481.2:n.665-770_665-769insGAC... | |
| ENST00000700182.1:c.707-770_707-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000514849.1:n.707-770_707-769insGAC... | |
| ENST00000357654.9:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG MANE Select | ENSP00000350283.3:p.His1244AspfsTer8 | |
| ENST00000471181.7:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418960.2:p.His1244AspfsTer8 | |
| ENST00000644379.1:c.50_51insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ||
| ENST00000352993.7:c.671-770_671-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000312236.5:n.671-770_671-769insGAC... | |
| ENST00000354071.7:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000326002.7:p.His1244AspfsTer8 | |
| ENST00000357654.7:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000350283.3:p.His1244AspfsTer8 | |
| ENST00000461221.5:c.*3512_*3513insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418548.1:n.*3512_*3513insGACACTT... | |
| ENST00000468300.5:c.788-770_788-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000417148.1:n.788-770_788-769insGAC... | |
| ENST00000471181.6:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418960.2:p.His1244AspfsTer8 | |
| ENST00000478531.5:c.785-770_785-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000420412.1:n.785-770_785-769insGAC... | |
| ENST00000484087.5:c.410-770_410-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000419481.1:n.410-770_410-769insGAC... | |
| ENST00000487825.5:c.413-770_413-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418212.1:n.413-770_413-769insGAC... | |
| ENST00000491747.6:c.788-770_788-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000420705.2:n.788-770_788-769insGAC... | |
| ENST00000493795.5:c.3588_3589insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418775.1:p.His1197AspfsTer8 | |
| ENST00000493919.5:c.647-770_647-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000418819.1:n.647-770_647-769insGAC... | |
| ENST00000586385.5:c.5-27851_5-27850insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000465818.1:n.5-27851_5-27850insGAC... | |
| ENST00000591534.5:c.-43-17281_-43-17280insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000467329.1:n.-43-17281_-43-17280in... | |
| ENST00000591849.5:c.-99+33469_-99+33470insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ENSP00000465347.1:n.-99+33469_-99+33470in... | |
| NM_007294.3:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG , LRG_292t1:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009225.1:p.His1244AspfsTer8 | |
| NM_007297.3:c.3588_3589insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009228.2:p.His1197AspfsTer8 | |
| NM_007298.3:c.788-770_788-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009229.2:n.788-770_788-769insGACACTTGT... | |
| NM_007299.3:c.788-770_788-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009230.2:n.788-770_788-769insGACACTTGT... | |
| NM_007300.3:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009231.2:p.His1244AspfsTer8 | |
| NR_027676.1:n.3865_3866insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | ||
| NM_007294.4:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG MANE Select | NP_009225.1:p.His1244AspfsTer8 | |
| NM_007297.4:c.3588_3589insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009228.2:p.His1197AspfsTer8 | |
| NM_007299.4:c.788-770_788-769insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009230.2:n.788-770_788-769insGACACTTGT... | |
| NM_007300.4:c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG | NP_009231.2:p.His1244AspfsTer8 | |
| NR_027676.2:n.3906_3907insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG |