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_000010.11:g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTAGCGTTAATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGATAGC , CM000672.2:g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTAGCGTTAATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGATAGC | GRCh38 |
| NC_000010.10:g.13325673_13325674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTAGCGTTAATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGATAGC , CM000672.1:g.13325673_13325674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTAGCGTTAATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGATAGC | GRCh37 |
| NC_000010.9:g.13365679_13365680insGGCACCGCCACCGGCGCCGAGGAACACGAACTTAGCGTTAATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGATAGC | NCBI36 |
| NG_012862.1:g.21457_21458insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263038.9:c.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC MANE Select | ENSP00000263038.4:n.828+16_828+17insGCTATCAGGTCACCAACCTGAACCG... | |
| ENST00000263038.8:c.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | ENSP00000263038.4:n.828+16_828+17insGCTATCAGGTCACCAACCTGAACCG... | |
| ENST00000396913.6:c.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | ENSP00000380121.2:n.528+16_528+17insGCTATCAGGTCACCAACCTGAACCG... | |
| ENST00000396920.7:c.777+16_777+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | ENSP00000380126.3:n.777+16_777+17insGCTATCAGGTCACCAACCTGAACCG... | |
| NM_001037537.1:c.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001032626.1:n.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_006214.3:c.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_006205.1:n.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTC... | |
| XM_005252469.2:c.609+16_609+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | XP_005252526.1:n.609+16_609+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323080.1:c.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310009.1:n.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323082.1:c.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310011.1:n.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323083.1:c.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310012.1:n.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323084.1:c.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310013.1:n.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_006214.4:c.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC MANE Select | NP_006205.1:n.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTC... | |
| NM_001037537.2:c.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001032626.1:n.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323080.2:c.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310009.1:n.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323082.2:c.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310011.1:n.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323083.2:c.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310012.1:n.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGA... | |
| NM_001323084.2:c.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC | NP_001310013.1:n.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGA... |