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.43094681_43094683delinsCTT , CM000679.2:g.43094681_43094683delinsCTT | GRCh38 |
| NC_000017.10:g.41246698_41246700delinsCTT , CM000679.1:g.41246698_41246700delinsCTT | GRCh37 |
| NC_000017.9:g.38500224_38500226delinsCTT | NCBI36 |
| NG_005905.2:g.123301_123303delinsAAG , LRG_292:g.123301_123303delinsAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.912_914delinsAAG | ||
| ENST00000461574.2:c.848_850delinsAAG | ENSP00000417241.2:p.Leu283Ter | |
| ENST00000470026.6:c.848_850delinsAAG | ENSP00000419274.2:p.Leu283Ter | |
| ENST00000473961.6:c.722_724delinsAAG | ENSP00000420201.2:p.Leu241Ter | |
| ENST00000476777.6:c.845_847delinsAAG | ENSP00000417554.2:p.Leu282Ter | |
| ENST00000477152.6:c.770_772delinsAAG | ENSP00000419988.2:p.Leu257Ter | |
| ENST00000478531.6:c.784+61_784+63delinsAAG | ENSP00000420412.2:n.784+61_784+63delinsAAG | |
| ENST00000489037.2:c.770_772delinsAAG | ENSP00000420781.2:p.Leu257Ter | |
| ENST00000493919.6:c.646+61_646+63delinsAAG | ENSP00000418819.2:n.646+61_646+63delinsAAG | |
| ENST00000494123.6:c.848_850delinsAAG | ENSP00000419103.2:p.Leu283Ter | |
| ENST00000497488.2:c.-41_-39delinsAAG | ENSP00000418986.2:n.-41_-39delinsAAG | |
| ENST00000618469.2:c.848_850delinsAAG | ENSP00000478114.2:p.Leu283Ter | |
| ENST00000634433.2:c.725_727delinsAAG | ENSP00000489431.2:p.Leu242Ter | |
| ENST00000644379.2:c.848_850delinsAAG | ENSP00000496570.2:p.Leu283Ter | |
| ENST00000644555.2:c.646+61_646+63delinsAAG | ENSP00000494614.2:n.646+61_646+63delinsAAG | |
| ENST00000652672.2:c.707_709delinsAAG | ENSP00000498906.2:p.Leu236Ter | |
| ENST00000484087.6:c.664+61_664+63delinsAAG | ENSP00000419481.2:n.664+61_664+63delinsAAG | |
| ENST00000700182.1:c.706+61_706+63delinsAAG | ENSP00000514849.1:n.706+61_706+63delinsAAG | |
| ENST00000700183.1:c.*856_*858delinsAAG | ENSP00000514850.1:n.*856_*858delinsAAG | |
| ENST00000357654.9:c.848_850delinsAAG MANE Select | ENSP00000350283.3:p.Leu283Ter | |
| ENST00000471181.7:c.848_850delinsAAG | ENSP00000418960.2:p.Leu283Ter | |
| ENST00000642945.1:c.*722_*724delinsAAG | ENSP00000495897.1:n.*722_*724delinsAAG | |
| ENST00000652672.1:c.707_709delinsAAG | ENSP00000498906.1:p.Leu236Ter | |
| ENST00000352993.7:c.670+1163_670+1165delinsAAG | ENSP00000312236.5:n.670+1163_670+1165delinsAAG | |
| ENST00000354071.7:c.848_850delinsAAG | ENSP00000326002.7:p.Leu283Ter | |
| ENST00000357654.7:c.848_850delinsAAG | ENSP00000350283.3:p.Leu283Ter | |
| ENST00000412061.3:c.199_201delinsAAG | ||
| ENST00000461221.5:c.*631_*633delinsAAG | ENSP00000418548.1:n.*631_*633delinsAAG | |
| ENST00000468300.5:c.787+61_787+63delinsAAG | ENSP00000417148.1:n.787+61_787+63delinsAAG | |
| ENST00000470026.5:c.848_850delinsAAG | ENSP00000419274.1:p.Leu283Ter | |
| ENST00000471181.6:c.848_850delinsAAG | ENSP00000418960.2:p.Leu283Ter | |
| ENST00000473961.5:c.445_447delinsAAG | ||
| ENST00000477152.5:c.770_772delinsAAG | ENSP00000419988.1:p.Leu257Ter | |
| ENST00000478531.5:c.784+61_784+63delinsAAG | ENSP00000420412.1:n.784+61_784+63delinsAAG | |
| ENST00000484087.5:c.409+61_409+63delinsAAG | ENSP00000419481.1:n.409+61_409+63delinsAAG | |
| ENST00000487825.5:c.412+61_412+63delinsAAG | ENSP00000418212.1:n.412+61_412+63delinsAAG | |
| ENST00000491747.6:c.787+61_787+63delinsAAG | ENSP00000420705.2:n.787+61_787+63delinsAAG | |
| ENST00000492859.5:c.*784_*786delinsAAG | ENSP00000420253.1:n.*784_*786delinsAAG | |
| ENST00000493795.5:c.707_709delinsAAG | ENSP00000418775.1:p.Leu236Ter | |
| ENST00000493919.5:c.646+61_646+63delinsAAG | ENSP00000418819.1:n.646+61_646+63delinsAAG | |
| ENST00000494123.5:c.848_850delinsAAG | ENSP00000419103.1:p.Leu283Ter | |
| ENST00000497488.1:c.-41_-39delinsAAG | ENSP00000418986.1:n.-41_-39delinsAAG | |
| ENST00000586385.5:c.4+30499_4+30501delinsAAG | ENSP00000465818.1:n.4+30499_4+30501delinsAAG | |
| ENST00000591534.5:c.-43-20162_-43-20160delinsAAG | ENSP00000467329.1:n.-43-20162_-43-20160delinsAAG | |
| ENST00000591849.5:c.-99+30588_-99+30590delinsAAG | ENSP00000465347.1:n.-99+30588_-99+30590delinsAAG | |
| ENST00000634433.1:c.725_727delinsAAG | ENSP00000489431.1:p.Leu242Ter | |
| NM_007294.3:c.848_850delinsAAG , LRG_292t1:c.848_850delinsAAG | NP_009225.1:p.Leu283Ter | |
| NM_007297.3:c.707_709delinsAAG | NP_009228.2:p.Leu236Ter | |
| NM_007298.3:c.787+61_787+63delinsAAG | NP_009229.2:n.787+61_787+63delinsAAG | |
| NM_007299.3:c.787+61_787+63delinsAAG | NP_009230.2:n.787+61_787+63delinsAAG | |
| NM_007300.3:c.848_850delinsAAG | NP_009231.2:p.Leu283Ter | |
| NR_027676.1:n.984_986delinsAAG | ||
| NM_007294.4:c.848_850delinsAAG MANE Select | NP_009225.1:p.Leu283Ter | |
| NM_007297.4:c.707_709delinsAAG | NP_009228.2:p.Leu236Ter | |
| NM_007299.4:c.787+61_787+63delinsAAG | NP_009230.2:n.787+61_787+63delinsAAG | |
| NM_007300.4:c.848_850delinsAAG | NP_009231.2:p.Leu283Ter | |
| NR_027676.2:n.1025_1027delinsAAG |