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_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTCCTGCTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTCCTGCTGCTGCTGCTGCTGCTGCTG | GRCh38 |
| NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTCCTGCTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTCCTGCTGCTGCTGCTGCTGCTGCTG | GRCh37 |
| NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTCCTGCTGCTGCTGCTGCTGCTGCTG | NCBI36 |
| NG_008198.2:g.40612_40613insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000352324.5:n.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000557030.6:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000452139.1:n.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000557311.6:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000450642.2:p.Gln126_Gly127insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000644486.2:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG MANE Select | ENSP00000496695.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000647161.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000493680.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000340660.10:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000339110.6:p.Gln250_Gly251insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000359366.9:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000352324.5:n.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000393287.9:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000376965.6:p.Gln254_Gly255insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000429774.6:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000389376.3:p.Gln235_Gly236insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000502250.5:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000425322.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000503767.5:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000426697.1:p.Gln290_Gly291insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000532032.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000437157.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000545170.5:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000445618.2:p.Gln314_Gly315insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000553287.5:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000553309.5:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000553488.5:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000452461.1:n.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000553491.5:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451996.1:p.Gln254_Gly255insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000553498.5:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000553570.5:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451405.1:n.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000553686.5:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000554040.5:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000554214.5:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000554350.5:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451103.1:n.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000554491.5:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000554592.5:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451385.1:p.Gln304_Gly305insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000554672.5:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451417.1:p.Gln207_Gly208insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000554994.5:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451771.1:n.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000555381.5:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451001.1:p.Gln235_Gly236insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000555816.5:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451910.1:n.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000555958.5:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000556082.5:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000450492.1:n.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000556220.5:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000450641.1:p.Gln199_Gly200insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000556274.5:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451733.1:n.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000556288.5:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000450566.1:n.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000556315.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451132.1:n.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000556339.5:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000556374.5:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451399.1:n.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000556644.5:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| ENST00000556671.5:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451693.1:n.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000556898.5:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000451769.1:n.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000556958.5:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000452532.1:n.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000557030.5:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000452139.1:n.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAG... | |
| ENST00000557311.5:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000450642.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000558190.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000478320.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000617719.4:c.*74_*75insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000481998.1:n.*74_*75insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000620536.4:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ENSP00000484016.1:p.Gln314_Gly315insGluGlnGlnGlnGlnGlnGlnGlnG... | |
| ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTCCTGCTGCTGCTGCTGCTGCTGCTG | ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaProAlaAlaAla... | |
| NM_001127696.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001121168.1:p.Gln290_Gly291insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001127697.2:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001121169.2:p.Gln254_Gly255insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164774.1:c.233_234insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158246.1:p.Gly78_Gly79insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_001164776.1:c.278_279insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158248.1:p.Gly93_Gly94insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_001164777.1:c.113_114insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158249.1:p.Gly38_Gly39insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_001164778.1:c.431_432insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158250.1:p.Gly144_Gly145insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164779.1:c.553_554insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158251.1:p.Gln184_Gly185insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164780.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158252.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164781.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158253.1:p.Gln235_Gly236insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164782.1:c.68_69insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158254.1:p.Gly23_Gly24insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_004993.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_004984.2:p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_030660.4:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_109376.1:p.Gln250_Gly251insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NR_028453.1:n.899_900insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028454.1:n.734_735insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028455.1:n.953_954insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028456.1:n.788_789insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028457.1:n.1044_1045insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028458.1:n.888_889insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028459.1:n.1039_1040insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028460.1:n.414_415insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028461.1:n.897_898insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028462.1:n.876_877insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028463.1:n.588_589insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028464.1:n.886_887insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028465.1:n.908_909insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028466.1:n.534_535insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028467.1:n.900_901insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028468.1:n.732_733insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028469.1:n.746_747insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028470.1:n.204_205insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_031765.1:n.401_402insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NM_001127696.2:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001121168.1:p.Gln290_Gly291insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164774.2:c.233_234insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158246.1:p.Gly78_Gly79insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_001164776.2:c.278_279insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158248.1:p.Gly93_Gly94insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_001164777.2:c.113_114insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158249.1:p.Gly38_Gly39insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_001164778.2:c.431_432insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158250.1:p.Gly144_Gly145insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164779.2:c.553_554insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158251.1:p.Gln184_Gly185insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164780.2:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158252.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164782.2:c.68_69insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158254.1:p.Gly23_Gly24insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla... | |
| NM_004993.6:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG MANE Select | NP_004984.2:p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_030660.5:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_109376.1:p.Gln250_Gly251insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NR_028453.2:n.860_861insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028454.2:n.695_696insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028455.2:n.914_915insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028456.2:n.749_750insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028457.2:n.1005_1006insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028458.2:n.849_850insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028459.2:n.1000_1001insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028460.2:n.375_376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028461.2:n.858_859insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028462.2:n.837_838insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028463.2:n.549_550insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028464.2:n.847_848insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028465.2:n.869_870insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028466.2:n.495_496insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028467.2:n.861_862insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028468.2:n.693_694insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028469.2:n.707_708insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_028470.2:n.165_166insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NR_031765.2:n.362_363insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | ||
| NM_001127697.3:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001121169.2:p.Gln254_Gly255insGluGlnGlnGlnGlnGlnGlnGlnGlnG... | |
| NM_001164781.2:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG | NP_001158253.1:p.Gln235_Gly236insGluGlnGlnGlnGlnGlnGlnGlnGlnG... |