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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC | GRCh38 |
| NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC | GRCh37 |
| NC_000014.7:g.91607107_91607108insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC | NCBI36 |
| NG_008198.2:g.40612_40613insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359366.10:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000352324.5:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000557030.6:c.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000452139.1:n.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000557311.6:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000450642.2:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000644486.2:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select | ENSP00000496695.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000647161.1:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000493680.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000340660.10:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000339110.6:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000359366.9:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000352324.5:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000393287.9:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000376965.6:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000429774.6:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000389376.3:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000502250.5:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000425322.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000503767.5:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000426697.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000526245.1:n.117-12223_117-12222insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000532032.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000437157.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000545170.5:c.943_944insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000445618.2:p.Gln314_Gly315insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000553287.5:n.654_655insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000553309.5:n.950_951insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000553488.5:c.*731_*732insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000452461.1:n.*731_*732insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000553491.5:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451996.1:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000553498.5:n.839_840insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000553570.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451405.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000553686.5:n.797_798insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000554040.5:n.520_521insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000554214.5:n.699_700insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000554350.5:c.*516_*517insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451103.1:n.*516_*517insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000554491.5:n.992_993insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000554592.5:c.913_914insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451385.1:p.Gln304_Gly305insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000554672.5:c.622_623insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451417.1:p.Gln207_Gly208insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000554994.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451771.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000555381.5:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451001.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000555816.5:c.*423_*424insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451910.1:n.*423_*424insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000555958.5:n.785_786insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000556082.5:c.*326_*327insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000450492.1:n.*326_*327insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000556220.5:c.598_599insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000450641.1:p.Gln199_Gly200insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000556274.5:c.*579_*580insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451733.1:n.*579_*580insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000556288.5:c.*567_*568insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000450566.1:n.*567_*568insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000556315.5:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451132.1:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000556339.5:n.453_454insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000556374.5:c.*644_*645insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451399.1:n.*644_*645insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000556644.5:n.300_301insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| ENST00000556671.5:c.*494_*495insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451693.1:n.*494_*495insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000556898.5:c.*413_*414insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000451769.1:n.*413_*414insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000556958.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000452532.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000557030.5:c.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000452139.1:n.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA... | |
| ENST00000557311.5:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000450642.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000558190.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000478320.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000617719.4:c.*74_*75insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000481998.1:n.*74_*75insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | |
| ENST00000620536.4:c.943_944insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ENSP00000484016.1:p.Gln314_Gly315insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000624063.1:c.31_32insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC | ENSP00000485197.1:p.Pro10_Pro11insLeuLeuLeuLeuLeuLeuLeuLeuLeu... | |
| NM_001127696.1:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001121168.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001127697.2:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001121169.2:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164774.1:c.233_234insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158246.1:p.Gly78_Gly79insSerSerSerSerSerSerSerSerSerArg... | |
| NM_001164776.1:c.278_279insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158248.1:p.Gly93_Gly94insSerSerSerSerSerSerSerSerSerArg... | |
| NM_001164777.1:c.113_114insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158249.1:p.Gly38_Gly39insSerSerSerSerSerSerSerSerSerArg... | |
| NM_001164778.1:c.431_432insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158250.1:p.Gly144_Gly145insSerSerSerSerSerSerSerSerSerA... | |
| NM_001164779.1:c.553_554insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158251.1:p.Gln184_Gly185insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164780.1:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158252.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164781.1:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158253.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164782.1:c.68_69insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158254.1:p.Gly23_Gly24insSerSerSerSerSerSerSerSerSerArg... | |
| NM_004993.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_004984.2:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_030660.4:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_109376.1:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NR_028453.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028454.1:n.734_735insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028455.1:n.953_954insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028456.1:n.788_789insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028457.1:n.1044_1045insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028458.1:n.888_889insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028459.1:n.1039_1040insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028460.1:n.414_415insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028461.1:n.897_898insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028462.1:n.876_877insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028463.1:n.588_589insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028464.1:n.886_887insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028465.1:n.908_909insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028466.1:n.534_535insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028467.1:n.900_901insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028468.1:n.732_733insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028469.1:n.746_747insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028470.1:n.204_205insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_031765.1:n.401_402insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NM_001127696.2:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001121168.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164774.2:c.233_234insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158246.1:p.Gly78_Gly79insSerSerSerSerSerSerSerSerSerArg... | |
| NM_001164776.2:c.278_279insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158248.1:p.Gly93_Gly94insSerSerSerSerSerSerSerSerSerArg... | |
| NM_001164777.2:c.113_114insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158249.1:p.Gly38_Gly39insSerSerSerSerSerSerSerSerSerArg... | |
| NM_001164778.2:c.431_432insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158250.1:p.Gly144_Gly145insSerSerSerSerSerSerSerSerSerA... | |
| NM_001164779.2:c.553_554insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158251.1:p.Gln184_Gly185insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164780.2:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158252.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164782.2:c.68_69insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158254.1:p.Gly23_Gly24insSerSerSerSerSerSerSerSerSerArg... | |
| NM_004993.6:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select | NP_004984.2:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_030660.5:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_109376.1:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | |
| NR_028453.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028454.2:n.695_696insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028455.2:n.914_915insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028456.2:n.749_750insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028457.2:n.1005_1006insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028458.2:n.849_850insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028459.2:n.1000_1001insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028460.2:n.375_376insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028461.2:n.858_859insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028462.2:n.837_838insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028463.2:n.549_550insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028464.2:n.847_848insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028465.2:n.869_870insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028466.2:n.495_496insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028467.2:n.861_862insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028468.2:n.693_694insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028469.2:n.707_708insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_028470.2:n.165_166insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NR_031765.2:n.362_363insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | ||
| NM_001127697.3:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001121169.2:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_001164781.2:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG | NP_001158253.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaAlaA... |