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.43115725_43115779delinsCTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA , CM000679.2:g.43115725_43115779delinsCTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA | GRCh38 |
| NC_000017.10:g.41267742_41267796delinsCTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA , CM000679.1:g.41267742_41267796delinsCTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA | GRCh37 |
| NC_000017.9:g.38521268_38521322delinsCTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA | NCBI36 |
| NG_005905.2:g.102205_102259delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG , LRG_292:g.102205_102259delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.145_198+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000461574.2:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000470026.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000473961.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000476777.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000477152.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000478531.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000489037.2:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000493919.6:c.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000418819.2:n.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAAC... | |
| ENST00000494123.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000497488.2:c.-219+9492_-219+9546delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000418986.2:n.-219+9492_-219+9546delinsTCTGGAGTTGATCAAG... | |
| ENST00000618469.2:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000634433.2:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000644379.2:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000644555.2:c.-61_-8+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000652672.2:c.-61_-8+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000484087.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000700182.1:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000700183.1:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000700184.1:n.324_377+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000700185.1:n.200_253+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000357654.9:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000471181.7:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000642945.1:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000644555.1:c.-61_-8+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000652672.1:c.-61_-8+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000352993.7:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000354071.7:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000357654.7:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000461221.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000461798.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000468300.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000470026.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000471181.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000476777.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000477152.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000478531.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000489037.1:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000491747.6:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000492859.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000493795.5:c.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000418775.1:n.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAAC... | |
| ENST00000493919.5:c.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000418819.1:n.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAAC... | |
| ENST00000494123.5:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| ENST00000497488.1:c.-219+9492_-219+9546delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000418986.1:n.-219+9492_-219+9546delinsTCTGGAGTTGATCAAG... | |
| ENST00000586385.5:c.4+9403_4+9457delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000465818.1:n.4+9403_4+9457delinsTCTGGAGTTGATCAAGGAACCT... | |
| ENST00000591534.5:c.-44+9492_-44+9546delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000467329.1:n.-44+9492_-44+9546delinsTCTGGAGTTGATCAAGGA... | |
| ENST00000591849.5:c.-99+9492_-99+9546delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ENSP00000465347.1:n.-99+9492_-99+9546delinsTCTGGAGTTGATCAAGGA... | |
| ENST00000634433.1:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NM_007294.3:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG , LRG_292t1:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NM_007297.3:c.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | NP_009228.2:n.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAACCTGTCT... | |
| NM_007298.3:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NM_007299.3:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NM_007300.3:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NR_027676.1:n.242_295+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NM_007294.4:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NM_007297.4:c.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | NP_009228.2:n.-8+8238_-8+8292delinsTCTGGAGTTGATCAAGGAACCTGTCT... | |
| NM_007299.4:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NM_007300.4:c.81_134+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG | ||
| NR_027676.2:n.283_336+1delinsTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAG |