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.43094651_43094683delinsTAGTGAGTAATAAACTGCTGTTCTCATGCTGTA , CM000679.2:g.43094651_43094683delinsTAGTGAGTAATAAACTGCTGTTCTCATGCTGTA | GRCh38 |
| NC_000017.10:g.41246668_41246700delinsTAGTGAGTAATAAACTGCTGTTCTCATGCTGTA , CM000679.1:g.41246668_41246700delinsTAGTGAGTAATAAACTGCTGTTCTCATGCTGTA | GRCh37 |
| NC_000017.9:g.38500194_38500226delinsTAGTGAGTAATAAACTGCTGTTCTCATGCTGTA | NCBI36 |
| NG_005905.2:g.123301_123333delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA , LRG_292:g.123301_123333delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.912_944delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ||
| ENST00000461574.2:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000417241.2:p.Leu283= | |
| ENST00000470026.6:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419274.2:p.Leu283= | |
| ENST00000473961.6:c.722_754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000420201.2:p.Leu241= | |
| ENST00000476777.6:c.845_877delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000417554.2:p.Leu282= | |
| ENST00000477152.6:c.770_802delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419988.2:p.Leu257= | |
| ENST00000478531.6:c.784+61_784+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000420412.2:n.784+61_784+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000489037.2:c.770_802delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000420781.2:p.Leu257= | |
| ENST00000493919.6:c.646+61_646+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418819.2:n.646+61_646+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000494123.6:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419103.2:p.Leu283= | |
| ENST00000497488.2:c.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418986.2:n.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTC... | |
| ENST00000618469.2:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000478114.2:p.Leu283= | |
| ENST00000634433.2:c.725_757delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000489431.2:p.Leu242= | |
| ENST00000644379.2:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000496570.2:p.Leu283= | |
| ENST00000644555.2:c.646+61_646+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000494614.2:n.646+61_646+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000652672.2:c.707_739delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000498906.2:p.Leu236= | |
| ENST00000484087.6:c.664+61_664+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419481.2:n.664+61_664+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000700182.1:c.706+61_706+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000514849.1:n.706+61_706+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000700183.1:c.*856_*888delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000514850.1:n.*856_*888delinsTACAGCATGAGAACAGCAGTTTATTA... | |
| ENST00000357654.9:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA MANE Select | ENSP00000350283.3:p.Leu283= | |
| ENST00000471181.7:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418960.2:p.Leu283= | |
| ENST00000642945.1:c.*722_*754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000495897.1:n.*722_*754delinsTACAGCATGAGAACAGCAGTTTATTA... | |
| ENST00000652672.1:c.707_739delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000498906.1:p.Leu236= | |
| ENST00000352993.7:c.670+1163_670+1195delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000312236.5:n.670+1163_670+1195delinsTACAGCATGAGAACAGCA... | |
| ENST00000354071.7:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000326002.7:p.Leu283= | |
| ENST00000357654.7:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000350283.3:p.Leu283= | |
| ENST00000412061.3:c.199_231delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ||
| ENST00000461221.5:c.*631_*663delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418548.1:n.*631_*663delinsTACAGCATGAGAACAGCAGTTTATTA... | |
| ENST00000468300.5:c.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000417148.1:n.787+61_787+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000470026.5:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419274.1:p.Leu283= | |
| ENST00000471181.6:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418960.2:p.Leu283= | |
| ENST00000473961.5:c.445_477delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ||
| ENST00000477152.5:c.770_802delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419988.1:p.Leu257= | |
| ENST00000478531.5:c.784+61_784+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000420412.1:n.784+61_784+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000484087.5:c.409+61_409+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419481.1:n.409+61_409+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000487825.5:c.412+61_412+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418212.1:n.412+61_412+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000491747.6:c.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000420705.2:n.787+61_787+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000492859.5:c.*784_*816delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000420253.1:n.*784_*816delinsTACAGCATGAGAACAGCAGTTTATTA... | |
| ENST00000493795.5:c.707_739delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418775.1:p.Leu236= | |
| ENST00000493919.5:c.646+61_646+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418819.1:n.646+61_646+93delinsTACAGCATGAGAACAGCAGTTT... | |
| ENST00000494123.5:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000419103.1:p.Leu283= | |
| ENST00000497488.1:c.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000418986.1:n.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTC... | |
| ENST00000586385.5:c.4+30499_4+30531delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000465818.1:n.4+30499_4+30531delinsTACAGCATGAGAACAGCAGT... | |
| ENST00000591534.5:c.-43-20162_-43-20130delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000467329.1:n.-43-20162_-43-20130delinsTACAGCATGAGAACAG... | |
| ENST00000591849.5:c.-99+30588_-99+30620delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000465347.1:n.-99+30588_-99+30620delinsTACAGCATGAGAACAG... | |
| ENST00000634433.1:c.725_757delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ENSP00000489431.1:p.Leu242= | |
| NM_007294.3:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA , LRG_292t1:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009225.1:p.Leu283= | |
| NM_007297.3:c.707_739delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009228.2:p.Leu236= | |
| NM_007298.3:c.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009229.2:n.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACT... | |
| NM_007299.3:c.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009230.2:n.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACT... | |
| NM_007300.3:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009231.2:p.Leu283= | |
| NR_027676.1:n.984_1016delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | ||
| NM_007294.4:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA MANE Select | NP_009225.1:p.Leu283= | |
| NM_007297.4:c.707_739delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009228.2:p.Leu236= | |
| NM_007299.4:c.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009230.2:n.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACT... | |
| NM_007300.4:c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | NP_009231.2:p.Leu283= | |
| NR_027676.2:n.1025_1057delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA |