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.43094514_43094515insG , CM000679.2:g.43094514_43094515insG | GRCh38 |
| NC_000017.10:g.41246531_41246532insG , CM000679.1:g.41246531_41246532insG | GRCh37 |
| NC_000017.9:g.38500057_38500058insG | NCBI36 |
| NG_005905.2:g.123469_123470insC , LRG_292:g.123469_123470insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1080_1081insC | ||
| ENST00000461574.2:c.1016_1017insC | ENSP00000417241.2:p.Lys339AsnfsTer7 | |
| ENST00000470026.6:c.1016_1017insC | ENSP00000419274.2:p.Lys339AsnfsTer7 | |
| ENST00000473961.6:c.890_891insC | ENSP00000420201.2:p.Lys297AsnfsTer7 | |
| ENST00000476777.6:c.1013_1014insC | ENSP00000417554.2:p.Lys338AsnfsTer7 | |
| ENST00000477152.6:c.938_939insC | ENSP00000419988.2:p.Lys313AsnfsTer7 | |
| ENST00000478531.6:c.784+229_784+230insC | ENSP00000420412.2:n.784+229_784+230insC | |
| ENST00000489037.2:c.938_939insC | ENSP00000420781.2:p.Lys313AsnfsTer7 | |
| ENST00000493919.6:c.646+229_646+230insC | ENSP00000418819.2:n.646+229_646+230insC | |
| ENST00000494123.6:c.1016_1017insC | ENSP00000419103.2:p.Lys339AsnfsTer7 | |
| ENST00000497488.2:c.128_129insC | ENSP00000418986.2:p.Lys43AsnfsTer7 | |
| ENST00000618469.2:c.1016_1017insC | ENSP00000478114.2:p.Lys339AsnfsTer7 | |
| ENST00000634433.2:c.893_894insC | ENSP00000489431.2:p.Lys298AsnfsTer7 | |
| ENST00000644379.2:c.1016_1017insC | ENSP00000496570.2:p.Lys339AsnfsTer7 | |
| ENST00000644555.2:c.646+229_646+230insC | ENSP00000494614.2:n.646+229_646+230insC | |
| ENST00000652672.2:c.875_876insC | ENSP00000498906.2:p.Lys292AsnfsTer7 | |
| ENST00000484087.6:c.664+229_664+230insC | ENSP00000419481.2:n.664+229_664+230insC | |
| ENST00000700182.1:c.706+229_706+230insC | ENSP00000514849.1:n.706+229_706+230insC | |
| ENST00000700183.1:c.*1024_*1025insC | ENSP00000514850.1:n.*1024_*1025insC | |
| ENST00000357654.9:c.1016_1017insC MANE Select | ENSP00000350283.3:p.Lys339AsnfsTer7 | |
| ENST00000471181.7:c.1016_1017insC | ENSP00000418960.2:p.Lys339AsnfsTer7 | |
| ENST00000642945.1:c.*890_*891insC | ENSP00000495897.1:n.*890_*891insC | |
| ENST00000652672.1:c.875_876insC | ENSP00000498906.1:p.Lys292AsnfsTer7 | |
| ENST00000352993.7:c.670+1331_670+1332insC | ENSP00000312236.5:n.670+1331_670+1332insC... | |
| ENST00000354071.7:c.1016_1017insC | ENSP00000326002.7:p.Lys339AsnfsTer7 | |
| ENST00000357654.7:c.1016_1017insC | ENSP00000350283.3:p.Lys339AsnfsTer7 | |
| ENST00000412061.3:c.367_368insC | ||
| ENST00000461221.5:c.*799_*800insC | ENSP00000418548.1:n.*799_*800insC | |
| ENST00000468300.5:c.787+229_787+230insC | ENSP00000417148.1:n.787+229_787+230insC | |
| ENST00000470026.5:c.1016_1017insC | ENSP00000419274.1:p.Lys339AsnfsTer7 | |
| ENST00000471181.6:c.1016_1017insC | ENSP00000418960.2:p.Lys339AsnfsTer7 | |
| ENST00000473961.5:c.613_614insC | ||
| ENST00000477152.5:c.938_939insC | ENSP00000419988.1:p.Lys313AsnfsTer7 | |
| ENST00000478531.5:c.784+229_784+230insC | ENSP00000420412.1:n.784+229_784+230insC | |
| ENST00000484087.5:c.409+229_409+230insC | ENSP00000419481.1:n.409+229_409+230insC | |
| ENST00000487825.5:c.412+229_412+230insC | ENSP00000418212.1:n.412+229_412+230insC | |
| ENST00000491747.6:c.787+229_787+230insC | ENSP00000420705.2:n.787+229_787+230insC | |
| ENST00000492859.5:c.*952_*953insC | ENSP00000420253.1:n.*952_*953insC | |
| ENST00000493795.5:c.875_876insC | ENSP00000418775.1:p.Lys292AsnfsTer7 | |
| ENST00000493919.5:c.646+229_646+230insC | ENSP00000418819.1:n.646+229_646+230insC | |
| ENST00000494123.5:c.1016_1017insC | ENSP00000419103.1:p.Lys339AsnfsTer7 | |
| ENST00000497488.1:c.128_129insC | ENSP00000418986.1:p.Lys43AsnfsTer7 | |
| ENST00000586385.5:c.5-30564_5-30563insC | ENSP00000465818.1:n.5-30564_5-30563insC | |
| ENST00000591534.5:c.-43-19994_-43-19993insC | ENSP00000467329.1:n.-43-19994_-43-19993in... | |
| ENST00000591849.5:c.-99+30756_-99+30757insC | ENSP00000465347.1:n.-99+30756_-99+30757in... | |
| ENST00000634433.1:c.893_894insC | ENSP00000489431.1:p.Lys298AsnfsTer7 | |
| NM_007294.3:c.1016_1017insC , LRG_292t1:c.1016_1017insC | NP_009225.1:p.Lys339AsnfsTer7 | |
| NM_007297.3:c.875_876insC | NP_009228.2:p.Lys292AsnfsTer7 | |
| NM_007298.3:c.787+229_787+230insC | NP_009229.2:n.787+229_787+230insC | |
| NM_007299.3:c.787+229_787+230insC | NP_009230.2:n.787+229_787+230insC | |
| NM_007300.3:c.1016_1017insC | NP_009231.2:p.Lys339AsnfsTer7 | |
| NR_027676.1:n.1152_1153insC | ||
| NM_007294.4:c.1016_1017insC MANE Select | NP_009225.1:p.Lys339AsnfsTer7 | |
| NM_007297.4:c.875_876insC | NP_009228.2:p.Lys292AsnfsTer7 | |
| NM_007299.4:c.787+229_787+230insC | NP_009230.2:n.787+229_787+230insC | |
| NM_007300.4:c.1016_1017insC | NP_009231.2:p.Lys339AsnfsTer7 | |
| NR_027676.2:n.1193_1194insC |