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.43094636_43094637delinsAC , CM000679.2:g.43094636_43094637delinsAC | GRCh38 |
| NC_000017.10:g.41246653_41246654delinsAC , CM000679.1:g.41246653_41246654delinsAC | GRCh37 |
| NC_000017.9:g.38500179_38500180delinsAC | NCBI36 |
| NG_005905.2:g.123347_123348delinsGT , LRG_292:g.123347_123348delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.958_959delinsGT | ||
| ENST00000461574.2:c.894_895delinsGT | ENSP00000417241.2:p.Asn298_Val299delinsLysLeu | |
| ENST00000470026.6:c.894_895delinsGT | ENSP00000419274.2:p.Asn298_Val299delinsLysLeu | |
| ENST00000473961.6:c.768_769delinsGT | ENSP00000420201.2:p.Asn256_Val257delinsLysLeu | |
| ENST00000476777.6:c.891_892delinsGT | ENSP00000417554.2:p.Asn297_Val298delinsLysLeu | |
| ENST00000477152.6:c.816_817delinsGT | ENSP00000419988.2:p.Asn272_Val273delinsLysLeu | |
| ENST00000478531.6:c.784+107_784+108delinsGT | ENSP00000420412.2:n.784+107_784+108delinsGT | |
| ENST00000489037.2:c.816_817delinsGT | ENSP00000420781.2:p.Asn272_Val273delinsLysLeu | |
| ENST00000493919.6:c.646+107_646+108delinsGT | ENSP00000418819.2:n.646+107_646+108delinsGT | |
| ENST00000494123.6:c.894_895delinsGT | ENSP00000419103.2:p.Asn298_Val299delinsLysLeu | |
| ENST00000497488.2:c.6_7delinsGT | ENSP00000418986.2:p.Asn2_Val3delinsLysLeu | |
| ENST00000618469.2:c.894_895delinsGT | ENSP00000478114.2:p.Asn298_Val299delinsLysLeu | |
| ENST00000634433.2:c.771_772delinsGT | ENSP00000489431.2:p.Asn257_Val258delinsLysLeu | |
| ENST00000644379.2:c.894_895delinsGT | ENSP00000496570.2:p.Asn298_Val299delinsLysLeu | |
| ENST00000644555.2:c.646+107_646+108delinsGT | ENSP00000494614.2:n.646+107_646+108delinsGT | |
| ENST00000652672.2:c.753_754delinsGT | ENSP00000498906.2:p.Asn251_Val252delinsLysLeu | |
| ENST00000484087.6:c.664+107_664+108delinsGT | ENSP00000419481.2:n.664+107_664+108delinsGT | |
| ENST00000700182.1:c.706+107_706+108delinsGT | ENSP00000514849.1:n.706+107_706+108delinsGT | |
| ENST00000700183.1:c.*902_*903delinsGT | ENSP00000514850.1:n.*902_*903delinsGT | |
| ENST00000357654.9:c.894_895delinsGT MANE Select | ENSP00000350283.3:p.Asn298_Val299delinsLysLeu | |
| ENST00000471181.7:c.894_895delinsGT | ENSP00000418960.2:p.Asn298_Val299delinsLysLeu | |
| ENST00000642945.1:c.*768_*769delinsGT | ENSP00000495897.1:n.*768_*769delinsGT | |
| ENST00000652672.1:c.753_754delinsGT | ENSP00000498906.1:p.Asn251_Val252delinsLysLeu | |
| ENST00000352993.7:c.670+1209_670+1210delinsGT | ENSP00000312236.5:n.670+1209_670+1210delinsGT | |
| ENST00000354071.7:c.894_895delinsGT | ENSP00000326002.7:p.Asn298_Val299delinsLysLeu | |
| ENST00000357654.7:c.894_895delinsGT | ENSP00000350283.3:p.Asn298_Val299delinsLysLeu | |
| ENST00000412061.3:c.245_246delinsGT | ||
| ENST00000461221.5:c.*677_*678delinsGT | ENSP00000418548.1:n.*677_*678delinsGT | |
| ENST00000468300.5:c.787+107_787+108delinsGT | ENSP00000417148.1:n.787+107_787+108delinsGT | |
| ENST00000470026.5:c.894_895delinsGT | ENSP00000419274.1:p.Asn298_Val299delinsLysLeu | |
| ENST00000471181.6:c.894_895delinsGT | ENSP00000418960.2:p.Asn298_Val299delinsLysLeu | |
| ENST00000473961.5:c.491_492delinsGT | ||
| ENST00000477152.5:c.816_817delinsGT | ENSP00000419988.1:p.Asn272_Val273delinsLysLeu | |
| ENST00000478531.5:c.784+107_784+108delinsGT | ENSP00000420412.1:n.784+107_784+108delinsGT | |
| ENST00000484087.5:c.409+107_409+108delinsGT | ENSP00000419481.1:n.409+107_409+108delinsGT | |
| ENST00000487825.5:c.412+107_412+108delinsGT | ENSP00000418212.1:n.412+107_412+108delinsGT | |
| ENST00000491747.6:c.787+107_787+108delinsGT | ENSP00000420705.2:n.787+107_787+108delinsGT | |
| ENST00000492859.5:c.*830_*831delinsGT | ENSP00000420253.1:n.*830_*831delinsGT | |
| ENST00000493795.5:c.753_754delinsGT | ENSP00000418775.1:p.Asn251_Val252delinsLysLeu | |
| ENST00000493919.5:c.646+107_646+108delinsGT | ENSP00000418819.1:n.646+107_646+108delinsGT | |
| ENST00000494123.5:c.894_895delinsGT | ENSP00000419103.1:p.Asn298_Val299delinsLysLeu | |
| ENST00000497488.1:c.6_7delinsGT | ENSP00000418986.1:p.Asn2_Val3delinsLysLeu | |
| ENST00000586385.5:c.4+30545_4+30546delinsGT | ENSP00000465818.1:n.4+30545_4+30546delinsGT | |
| ENST00000591534.5:c.-43-20116_-43-20115delinsGT | ENSP00000467329.1:n.-43-20116_-43-20115delinsGT | |
| ENST00000591849.5:c.-99+30634_-99+30635delinsGT | ENSP00000465347.1:n.-99+30634_-99+30635delinsGT | |
| ENST00000634433.1:c.771_772delinsGT | ENSP00000489431.1:p.Asn257_Val258delinsLysLeu | |
| NM_007294.3:c.894_895delinsGT , LRG_292t1:c.894_895delinsGT | NP_009225.1:p.Asn298_Val299delinsLysLeu | |
| NM_007297.3:c.753_754delinsGT | NP_009228.2:p.Asn251_Val252delinsLysLeu | |
| NM_007298.3:c.787+107_787+108delinsGT | NP_009229.2:n.787+107_787+108delinsGT | |
| NM_007299.3:c.787+107_787+108delinsGT | NP_009230.2:n.787+107_787+108delinsGT | |
| NM_007300.3:c.894_895delinsGT | NP_009231.2:p.Asn298_Val299delinsLysLeu | |
| NR_027676.1:n.1030_1031delinsGT | ||
| NM_007294.4:c.894_895delinsGT MANE Select | NP_009225.1:p.Asn298_Val299delinsLysLeu | |
| NM_007297.4:c.753_754delinsGT | NP_009228.2:p.Asn251_Val252delinsLysLeu | |
| NM_007299.4:c.787+107_787+108delinsGT | NP_009230.2:n.787+107_787+108delinsGT | |
| NM_007300.4:c.894_895delinsGT | NP_009231.2:p.Asn298_Val299delinsLysLeu | |
| NR_027676.2:n.1071_1072delinsGT |