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.43094575_43094589delinsGAAGTAAG , CM000679.2:g.43094575_43094589delinsGAAGTAAG | GRCh38 |
| NC_000017.10:g.41246592_41246606delinsGAAGTAAG , CM000679.1:g.41246592_41246606delinsGAAGTAAG | GRCh37 |
| NC_000017.9:g.38500118_38500132delinsGAAGTAAG | NCBI36 |
| NG_005905.2:g.123395_123409delinsCTTACTTC , LRG_292:g.123395_123409delinsCTTACTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1006_1020delinsCTTACTTC | ||
| ENST00000461574.2:c.942_956delinsCTTACTTC | ENSP00000417241.2:p.Arg315LeufsTer24 | |
| ENST00000470026.6:c.942_956delinsCTTACTTC | ENSP00000419274.2:p.Arg315LeufsTer24 | |
| ENST00000473961.6:c.816_830delinsCTTACTTC | ENSP00000420201.2:p.Arg273LeufsTer24 | |
| ENST00000476777.6:c.939_953delinsCTTACTTC | ENSP00000417554.2:p.Arg314LeufsTer24 | |
| ENST00000477152.6:c.864_878delinsCTTACTTC | ENSP00000419988.2:p.Arg289LeufsTer24 | |
| ENST00000478531.6:c.784+155_784+169delinsCTTACTTC | ENSP00000420412.2:n.784+155_784+169delinsCTTACTTC | |
| ENST00000489037.2:c.864_878delinsCTTACTTC | ENSP00000420781.2:p.Arg289LeufsTer24 | |
| ENST00000493919.6:c.646+155_646+169delinsCTTACTTC | ENSP00000418819.2:n.646+155_646+169delinsCTTACTTC | |
| ENST00000494123.6:c.942_956delinsCTTACTTC | ENSP00000419103.2:p.Arg315LeufsTer24 | |
| ENST00000497488.2:c.54_68delinsCTTACTTC | ENSP00000418986.2:p.Arg19LeufsTer24 | |
| ENST00000618469.2:c.942_956delinsCTTACTTC | ENSP00000478114.2:p.Arg315LeufsTer24 | |
| ENST00000634433.2:c.819_833delinsCTTACTTC | ENSP00000489431.2:p.Arg274LeufsTer24 | |
| ENST00000644379.2:c.942_956delinsCTTACTTC | ENSP00000496570.2:p.Arg315LeufsTer24 | |
| ENST00000644555.2:c.646+155_646+169delinsCTTACTTC | ENSP00000494614.2:n.646+155_646+169delinsCTTACTTC | |
| ENST00000652672.2:c.801_815delinsCTTACTTC | ENSP00000498906.2:p.Arg268LeufsTer24 | |
| ENST00000484087.6:c.664+155_664+169delinsCTTACTTC | ENSP00000419481.2:n.664+155_664+169delinsCTTACTTC | |
| ENST00000700182.1:c.706+155_706+169delinsCTTACTTC | ENSP00000514849.1:n.706+155_706+169delinsCTTACTTC | |
| ENST00000700183.1:c.*950_*964delinsCTTACTTC | ENSP00000514850.1:n.*950_*964delinsCTTACTTC | |
| ENST00000357654.9:c.942_956delinsCTTACTTC MANE Select | ENSP00000350283.3:p.Arg315LeufsTer24 | |
| ENST00000471181.7:c.942_956delinsCTTACTTC | ENSP00000418960.2:p.Arg315LeufsTer24 | |
| ENST00000642945.1:c.*816_*830delinsCTTACTTC | ENSP00000495897.1:n.*816_*830delinsCTTACTTC | |
| ENST00000652672.1:c.801_815delinsCTTACTTC | ENSP00000498906.1:p.Arg268LeufsTer24 | |
| ENST00000352993.7:c.670+1257_670+1271delinsCTTACTTC | ENSP00000312236.5:n.670+1257_670+1271delinsCTTACTTC | |
| ENST00000354071.7:c.942_956delinsCTTACTTC | ENSP00000326002.7:p.Arg315LeufsTer24 | |
| ENST00000357654.7:c.942_956delinsCTTACTTC | ENSP00000350283.3:p.Arg315LeufsTer24 | |
| ENST00000412061.3:c.293_307delinsCTTACTTC | ||
| ENST00000461221.5:c.*725_*739delinsCTTACTTC | ENSP00000418548.1:n.*725_*739delinsCTTACTTC | |
| ENST00000468300.5:c.787+155_787+169delinsCTTACTTC | ENSP00000417148.1:n.787+155_787+169delinsCTTACTTC | |
| ENST00000470026.5:c.942_956delinsCTTACTTC | ENSP00000419274.1:p.Arg315LeufsTer24 | |
| ENST00000471181.6:c.942_956delinsCTTACTTC | ENSP00000418960.2:p.Arg315LeufsTer24 | |
| ENST00000473961.5:c.539_553delinsCTTACTTC | ||
| ENST00000477152.5:c.864_878delinsCTTACTTC | ENSP00000419988.1:p.Arg289LeufsTer24 | |
| ENST00000478531.5:c.784+155_784+169delinsCTTACTTC | ENSP00000420412.1:n.784+155_784+169delinsCTTACTTC | |
| ENST00000484087.5:c.409+155_409+169delinsCTTACTTC | ENSP00000419481.1:n.409+155_409+169delinsCTTACTTC | |
| ENST00000487825.5:c.412+155_412+169delinsCTTACTTC | ENSP00000418212.1:n.412+155_412+169delinsCTTACTTC | |
| ENST00000491747.6:c.787+155_787+169delinsCTTACTTC | ENSP00000420705.2:n.787+155_787+169delinsCTTACTTC | |
| ENST00000492859.5:c.*878_*892delinsCTTACTTC | ENSP00000420253.1:n.*878_*892delinsCTTACTTC | |
| ENST00000493795.5:c.801_815delinsCTTACTTC | ENSP00000418775.1:p.Arg268LeufsTer24 | |
| ENST00000493919.5:c.646+155_646+169delinsCTTACTTC | ENSP00000418819.1:n.646+155_646+169delinsCTTACTTC | |
| ENST00000494123.5:c.942_956delinsCTTACTTC | ENSP00000419103.1:p.Arg315LeufsTer24 | |
| ENST00000497488.1:c.54_68delinsCTTACTTC | ENSP00000418986.1:p.Arg19LeufsTer24 | |
| ENST00000586385.5:c.4+30593_4+30607delinsCTTACTTC | ENSP00000465818.1:n.4+30593_4+30607delinsCTTACTTC | |
| ENST00000591534.5:c.-43-20068_-43-20054delinsCTTACTTC | ENSP00000467329.1:n.-43-20068_-43-20054delinsCTTACTTC | |
| ENST00000591849.5:c.-99+30682_-99+30696delinsCTTACTTC | ENSP00000465347.1:n.-99+30682_-99+30696delinsCTTACTTC | |
| ENST00000634433.1:c.819_833delinsCTTACTTC | ENSP00000489431.1:p.Arg274LeufsTer24 | |
| NM_007294.3:c.942_956delinsCTTACTTC , LRG_292t1:c.942_956delinsCTTACTTC | NP_009225.1:p.Arg315LeufsTer24 | |
| NM_007297.3:c.801_815delinsCTTACTTC | NP_009228.2:p.Arg268LeufsTer24 | |
| NM_007298.3:c.787+155_787+169delinsCTTACTTC | NP_009229.2:n.787+155_787+169delinsCTTACTTC | |
| NM_007299.3:c.787+155_787+169delinsCTTACTTC | NP_009230.2:n.787+155_787+169delinsCTTACTTC | |
| NM_007300.3:c.942_956delinsCTTACTTC | NP_009231.2:p.Arg315LeufsTer24 | |
| NR_027676.1:n.1078_1092delinsCTTACTTC | ||
| NM_007294.4:c.942_956delinsCTTACTTC MANE Select | NP_009225.1:p.Arg315LeufsTer24 | |
| NM_007297.4:c.801_815delinsCTTACTTC | NP_009228.2:p.Arg268LeufsTer24 | |
| NM_007299.4:c.787+155_787+169delinsCTTACTTC | NP_009230.2:n.787+155_787+169delinsCTTACTTC | |
| NM_007300.4:c.942_956delinsCTTACTTC | NP_009231.2:p.Arg315LeufsTer24 | |
| NR_027676.2:n.1119_1133delinsCTTACTTC |