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_000009.12:g.108893984_108893985insCTTGGCTACGGCAGGAATAGCCGGTTGCGAGACAATGATTCGGATCTTTACCTTGTAATTTTTTGCCCCATGATACGTCGTAAATATCTTTCGACATGGTTTGATTTTGTACTTCATGACCAAATAC , CM000671.2:g.108893984_108893985insCTTGGCTACGGCAGGAATAGCCGGTTGCGAGACAATGATTCGGATCTTTACCTTGTAATTTTTTGCCCCATGATACGTCGTAAATATCTTTCGACATGGTTTGATTTTGTACTTCATGACCAAATAC | GRCh38 |
| NC_000009.11:g.111656264_111656265insCTTGGCTACGGCAGGAATAGCCGGTTGCGAGACAATGATTCGGATCTTTACCTTGTAATTTTTTGCCCCATGATACGTCGTAAATATCTTTCGACATGGTTTGATTTTGTACTTCATGACCAAATAC , CM000671.1:g.111656264_111656265insCTTGGCTACGGCAGGAATAGCCGGTTGCGAGACAATGATTCGGATCTTTACCTTGTAATTTTTTGCCCCATGATACGTCGTAAATATCTTTCGACATGGTTTGATTTTGTACTTCATGACCAAATAC | GRCh37 |
| NC_000009.10:g.110696085_110696086insCTTGGCTACGGCAGGAATAGCCGGTTGCGAGACAATGATTCGGATCTTTACCTTGTAATTTTTTGCCCCATGATACGTCGTAAATATCTTTCGACATGGTTTGATTTTGTACTTCATGACCAAATAC | NCBI36 |
| NG_008788.1:g.45344_45345insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG , LRG_251:g.45344_45345insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG MANE Select | ENSP00000363779.5:p.Leu940CysfsTer5 | |
| ENST00000495759.6:c.*1428_*1429insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000433514.2:n.*1428_*1429insGTATTTGGTCATGAAGTACAAAATCAA... | |
| ENST00000674535.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502142.1:p.Leu940CysfsTer5 | |
| ENST00000674704.1:n.5903_5904insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000674836.1:n.3431_3432insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000674890.1:c.*53_*54insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501870.1:n.*53_*54insGTATTTGGTCATGAAGTACAAAATCAAACCA... | |
| ENST00000674938.1:c.2476_2477insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502427.1:p.Leu826CysfsTer5 | |
| ENST00000674948.1:c.2476_2477insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501602.1:p.Leu826CysfsTer5 | |
| ENST00000675052.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502664.1:p.Leu940CysfsTer5 | |
| ENST00000675078.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501549.1:p.Leu940CysfsTer5 | |
| ENST00000675215.1:c.*2042_*2043insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502558.1:n.*2042_*2043insGTATTTGGTCATGAAGTACAAAATCAA... | |
| ENST00000675233.1:n.4645_4646insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675321.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502751.1:p.Leu940CysfsTer5 | |
| ENST00000675325.1:n.4775_4776insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675335.1:c.2849_2850insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502182.1:n.2849_2850insGTATTTGGTCATGAAGTACAAAATCAAAC... | |
| ENST00000675400.1:n.4553_4554insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675406.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501893.1:p.Leu940CysfsTer5 | |
| ENST00000675458.1:c.2911_2912insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501754.1:n.2911_2912insGTATTTGGTCATGAAGTACAAAATCAAAC... | |
| ENST00000675507.1:n.4614_4615insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675535.1:c.*445_*446insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501667.1:n.*445_*446insGTATTTGGTCATGAAGTACAAAATCAAAC... | |
| ENST00000675566.1:n.4676_4677insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675602.1:n.5866_5867insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675647.1:n.3123_3124insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675711.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502485.1:p.Leu940CysfsTer5 | |
| ENST00000675727.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501722.1:p.Leu940CysfsTer5 | |
| ENST00000675748.1:n.4452_4453insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675765.1:c.*201_*202insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502640.1:n.*201_*202insGTATTTGGTCATGAAGTACAAAATCAAAC... | |
| ENST00000675825.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502632.1:p.Leu940CysfsTer5 | |
| ENST00000675877.1:n.3123_3124insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675893.1:c.*3887_*3888insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502001.1:n.*3887_*3888insGTATTTGGTCATGAAGTACAAAATCAA... | |
| ENST00000675943.1:n.6433_6434insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000675979.1:c.*2061_*2062insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502208.1:n.*2061_*2062insGTATTTGGTCATGAAGTACAAAATCAA... | |
| ENST00000676044.1:c.*478_*479insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000502378.1:n.*478_*479insGTATTTGGTCATGAAGTACAAAATCAAAC... | |
| ENST00000676086.1:n.4603_4604insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000676121.1:n.4646_4647insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000676237.1:c.2719_2720insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501828.1:p.Leu907CysfsTer5 | |
| ENST00000676416.1:c.2476_2477insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000501660.1:p.Leu826CysfsTer5 | |
| ENST00000676424.1:n.4614_4615insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000676429.1:n.7287_7288insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| ENST00000374647.9:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000363779.5:p.Leu940CysfsTer5 | |
| ENST00000537196.1:c.1771_1772insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ENSP00000439367.1:p.Leu591CysfsTer5 | |
| NM_003640.3:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG , LRG_251t1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | NP_003631.2:p.Leu940CysfsTer5 | |
| XM_005252285.2:c.2476_2477insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | XP_005252342.1:p.Leu826CysfsTer5 | |
| XM_011519136.1:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | XP_011517438.1:p.Leu940CysfsTer5 | |
| XM_011519137.1:c.2476_2477insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | XP_011517439.1:p.Leu826CysfsTer5 | |
| XR_929859.1:n.3196_3197insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| NM_001318360.1:c.2476_2477insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | NP_001305289.1:p.Leu826CysfsTer5 | |
| NM_001330749.1:c.1771_1772insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | NP_001317678.1:p.Leu591CysfsTer5 | |
| NM_003640.4:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | NP_003631.2:p.Leu940CysfsTer5 | |
| XM_011519136.2:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | XP_011517438.1:p.Leu940CysfsTer5 | |
| XR_929859.3:n.3207_3208insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | ||
| NM_003640.5:c.2818_2819insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG MANE Select | NP_003631.2:p.Leu940CysfsTer5 | |
| NM_001318360.2:c.2476_2477insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | NP_001305289.1:p.Leu826CysfsTer5 | |
| NM_001330749.2:c.1771_1772insGTATTTGGTCATGAAGTACAAAATCAAACCATGTCGAAAGATATTTACGACGTATCATGGGGCAAAAAATTACAAGGTAAAGATCCGAATCATTGTCTCGCAACCGGCTATTCCTGCCGTAGCCAAG | NP_001317678.1:p.Leu591CysfsTer5 |