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.43094639_43094640delinsAT , CM000679.2:g.43094639_43094640delinsAT | GRCh38 |
| NC_000017.10:g.41246656_41246657delinsAT , CM000679.1:g.41246656_41246657delinsAT | GRCh37 |
| NC_000017.9:g.38500182_38500183delinsAT | NCBI36 |
| NG_005905.2:g.123344_123345delinsAT , LRG_292:g.123344_123345delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.955_956delinsAT | ||
| ENST00000461574.2:c.891_892delinsAT | ENSP00000417241.2:p.Met297_Asn298delinsIleTyr | |
| ENST00000470026.6:c.891_892delinsAT | ENSP00000419274.2:p.Met297_Asn298delinsIleTyr | |
| ENST00000473961.6:c.765_766delinsAT | ENSP00000420201.2:p.Met255_Asn256delinsIleTyr | |
| ENST00000476777.6:c.888_889delinsAT | ENSP00000417554.2:p.Met296_Asn297delinsIleTyr | |
| ENST00000477152.6:c.813_814delinsAT | ENSP00000419988.2:p.Met271_Asn272delinsIleTyr | |
| ENST00000478531.6:c.784+104_784+105delinsAT | ENSP00000420412.2:n.784+104_784+105delinsAT | |
| ENST00000489037.2:c.813_814delinsAT | ENSP00000420781.2:p.Met271_Asn272delinsIleTyr | |
| ENST00000493919.6:c.646+104_646+105delinsAT | ENSP00000418819.2:n.646+104_646+105delinsAT | |
| ENST00000494123.6:c.891_892delinsAT | ENSP00000419103.2:p.Met297_Asn298delinsIleTyr | |
| ENST00000497488.2:c.3_4delinsAT | ENSP00000418986.2:p.Met1_Asn2delinsIleTyr | |
| ENST00000618469.2:c.891_892delinsAT | ENSP00000478114.2:p.Met297_Asn298delinsIleTyr | |
| ENST00000634433.2:c.768_769delinsAT | ENSP00000489431.2:p.Met256_Asn257delinsIleTyr | |
| ENST00000644379.2:c.891_892delinsAT | ENSP00000496570.2:p.Met297_Asn298delinsIleTyr | |
| ENST00000644555.2:c.646+104_646+105delinsAT | ENSP00000494614.2:n.646+104_646+105delinsAT | |
| ENST00000652672.2:c.750_751delinsAT | ENSP00000498906.2:p.Met250_Asn251delinsIleTyr | |
| ENST00000484087.6:c.664+104_664+105delinsAT | ENSP00000419481.2:n.664+104_664+105delinsAT | |
| ENST00000700182.1:c.706+104_706+105delinsAT | ENSP00000514849.1:n.706+104_706+105delinsAT | |
| ENST00000700183.1:c.*899_*900delinsAT | ENSP00000514850.1:n.*899_*900delinsAT | |
| ENST00000357654.9:c.891_892delinsAT MANE Select | ENSP00000350283.3:p.Met297_Asn298delinsIleTyr | |
| ENST00000471181.7:c.891_892delinsAT | ENSP00000418960.2:p.Met297_Asn298delinsIleTyr | |
| ENST00000642945.1:c.*765_*766delinsAT | ENSP00000495897.1:n.*765_*766delinsAT | |
| ENST00000652672.1:c.750_751delinsAT | ENSP00000498906.1:p.Met250_Asn251delinsIleTyr | |
| ENST00000352993.7:c.670+1206_670+1207delinsAT | ENSP00000312236.5:n.670+1206_670+1207delinsAT | |
| ENST00000354071.7:c.891_892delinsAT | ENSP00000326002.7:p.Met297_Asn298delinsIleTyr | |
| ENST00000357654.7:c.891_892delinsAT | ENSP00000350283.3:p.Met297_Asn298delinsIleTyr | |
| ENST00000412061.3:c.242_243delinsAT | ||
| ENST00000461221.5:c.*674_*675delinsAT | ENSP00000418548.1:n.*674_*675delinsAT | |
| ENST00000468300.5:c.787+104_787+105delinsAT | ENSP00000417148.1:n.787+104_787+105delinsAT | |
| ENST00000470026.5:c.891_892delinsAT | ENSP00000419274.1:p.Met297_Asn298delinsIleTyr | |
| ENST00000471181.6:c.891_892delinsAT | ENSP00000418960.2:p.Met297_Asn298delinsIleTyr | |
| ENST00000473961.5:c.488_489delinsAT | ||
| ENST00000477152.5:c.813_814delinsAT | ENSP00000419988.1:p.Met271_Asn272delinsIleTyr | |
| ENST00000478531.5:c.784+104_784+105delinsAT | ENSP00000420412.1:n.784+104_784+105delinsAT | |
| ENST00000484087.5:c.409+104_409+105delinsAT | ENSP00000419481.1:n.409+104_409+105delinsAT | |
| ENST00000487825.5:c.412+104_412+105delinsAT | ENSP00000418212.1:n.412+104_412+105delinsAT | |
| ENST00000491747.6:c.787+104_787+105delinsAT | ENSP00000420705.2:n.787+104_787+105delinsAT | |
| ENST00000492859.5:c.*827_*828delinsAT | ENSP00000420253.1:n.*827_*828delinsAT | |
| ENST00000493795.5:c.750_751delinsAT | ENSP00000418775.1:p.Met250_Asn251delinsIleTyr | |
| ENST00000493919.5:c.646+104_646+105delinsAT | ENSP00000418819.1:n.646+104_646+105delinsAT | |
| ENST00000494123.5:c.891_892delinsAT | ENSP00000419103.1:p.Met297_Asn298delinsIleTyr | |
| ENST00000497488.1:c.3_4delinsAT | ENSP00000418986.1:p.Met1_Asn2delinsIleTyr | |
| ENST00000586385.5:c.4+30542_4+30543delinsAT | ENSP00000465818.1:n.4+30542_4+30543delinsAT | |
| ENST00000591534.5:c.-43-20119_-43-20118delinsAT | ENSP00000467329.1:n.-43-20119_-43-20118delinsAT | |
| ENST00000591849.5:c.-99+30631_-99+30632delinsAT | ENSP00000465347.1:n.-99+30631_-99+30632delinsAT | |
| ENST00000634433.1:c.768_769delinsAT | ENSP00000489431.1:p.Met256_Asn257delinsIleTyr | |
| NM_007294.3:c.891_892delinsAT , LRG_292t1:c.891_892delinsAT | NP_009225.1:p.Met297_Asn298delinsIleTyr | |
| NM_007297.3:c.750_751delinsAT | NP_009228.2:p.Met250_Asn251delinsIleTyr | |
| NM_007298.3:c.787+104_787+105delinsAT | NP_009229.2:n.787+104_787+105delinsAT | |
| NM_007299.3:c.787+104_787+105delinsAT | NP_009230.2:n.787+104_787+105delinsAT | |
| NM_007300.3:c.891_892delinsAT | NP_009231.2:p.Met297_Asn298delinsIleTyr | |
| NR_027676.1:n.1027_1028delinsAT | ||
| NM_007294.4:c.891_892delinsAT MANE Select | NP_009225.1:p.Met297_Asn298delinsIleTyr | |
| NM_007297.4:c.750_751delinsAT | NP_009228.2:p.Met250_Asn251delinsIleTyr | |
| NM_007299.4:c.787+104_787+105delinsAT | NP_009230.2:n.787+104_787+105delinsAT | |
| NM_007300.4:c.891_892delinsAT | NP_009231.2:p.Met297_Asn298delinsIleTyr | |
| NR_027676.2:n.1068_1069delinsAT |