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_000002.12:g.214744796_214744797insCACTTCAAGGTACTTTGAACTGCATC , CM000664.2:g.214744796_214744797insCACTTCAAGGTACTTTGAACTGCATC | GRCh38 |
| NC_000002.11:g.215609520_215609521insCACTTCAAGGTACTTTGAACTGCATC , CM000664.1:g.215609520_215609521insCACTTCAAGGTACTTTGAACTGCATC | GRCh37 |
| NC_000002.10:g.215317765_215317766insCACTTCAAGGTACTTTGAACTGCATC | NCBI36 |
| NG_012047.2:g.69908_69909insGATGCAGTTCAAAGTACCTTGAAGTG | |
| NG_012047.3:g.69915_69916insGATGCAGTTCAAAGTACCTTGAAGTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAGTG MANE Select | ENSP00000260947.4:n.1903+270_1903+271insGATGCAGTTCAAAGTACCTTG... | |
| ENST00000421162.2:c.550+270_550+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000392245.2:n.550+270_550+271insGATGCAGTTCAAAGTACCTTGAA... | |
| ENST00000613192.2:c.159-14289_159-14288insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000483275.2:n.159-14289_159-14288insGATGCAGTTCAAAGTACCT... | |
| ENST00000613374.5:c.493+270_493+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000484464.1:n.493+270_493+271insGATGCAGTTCAAAGTACCTTGAA... | |
| ENST00000613706.5:c.1495+270_1495+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000484976.2:n.1495+270_1495+271insGATGCAGTTCAAAGTACCTTG... | |
| ENST00000617164.5:c.1846+270_1846+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000480470.1:n.1846+270_1846+271insGATGCAGTTCAAAGTACCTTG... | |
| ENST00000619009.5:c.365-14289_365-14288insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000482293.1:n.365-14289_365-14288insGATGCAGTTCAAAGTACCT... | |
| ENST00000650978.1:c.3278+270_3278+271insGATGCAGTTCAAAGTACCTTGAAGTG | ||
| ENST00000260947.8:c.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000260947.4:n.1903+270_1903+271insGATGCAGTTCAAAGTACCTTG... | |
| ENST00000421162.1:c.550+270_550+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000392245.1:n.550+270_550+271insGATGCAGTTCAAAGTACCTTGAA... | |
| ENST00000455743.5:c.*1523+270_*1523+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000412186.1:n.*1523+270_*1523+271insGATGCAGTTCAAAGTACCT... | |
| ENST00000613192.1:c.74-14289_74-14288insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000483275.1:n.74-14289_74-14288insGATGCAGTTCAAAGTACCTTG... | |
| ENST00000613374.4:c.493+270_493+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000484464.1:n.493+270_493+271insGATGCAGTTCAAAGTACCTTGAA... | |
| ENST00000613706.4:c.550+270_550+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000484976.1:n.550+270_550+271insGATGCAGTTCAAAGTACCTTGAA... | |
| ENST00000617164.4:c.1846+270_1846+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000480470.1:n.1846+270_1846+271insGATGCAGTTCAAAGTACCTTG... | |
| ENST00000619009.4:c.365-14289_365-14288insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000482293.1:n.365-14289_365-14288insGATGCAGTTCAAAGTACCT... | |
| ENST00000620057.4:c.*569+270_*569+271insGATGCAGTTCAAAGTACCTTGAAGTG | ENSP00000481988.1:n.*569+270_*569+271insGATGCAGTTCAAAGTACCTTG... | |
| NM_000465.3:c.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAGTG | NP_000456.2:n.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAGTG | |
| NM_001282543.1:c.1846+270_1846+271insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269472.1:n.1846+270_1846+271insGATGCAGTTCAAAGTACCTTGAAG... | |
| NM_001282545.1:c.550+270_550+271insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269474.1:n.550+270_550+271insGATGCAGTTCAAAGTACCTTGAAGTG... | |
| NM_001282548.1:c.493+270_493+271insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269477.1:n.493+270_493+271insGATGCAGTTCAAAGTACCTTGAAGTG... | |
| NM_001282549.1:c.365-14289_365-14288insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269478.1:n.365-14289_365-14288insGATGCAGTTCAAAGTACCTTGA... | |
| NR_104212.1:n.1896+270_1896+271insGATGCAGTTCAAAGTACCTTGAAGTG | ||
| NR_104215.1:n.1839+270_1839+271insGATGCAGTTCAAAGTACCTTGAAGTG | ||
| NR_104216.1:n.1095+270_1095+271insGATGCAGTTCAAAGTACCTTGAAGTG | ||
| XM_011511567.1:c.1849+270_1849+271insGATGCAGTTCAAAGTACCTTGAAGTG | XP_011509869.1:n.1849+270_1849+271insGATGCAGTTCAAAGTACCTTGAAG... | |
| XM_011511568.1:c.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAGTG | XP_011509870.1:n.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAG... | |
| XM_017004613.1:c.2002+270_2002+271insGATGCAGTTCAAAGTACCTTGAAGTG | XP_016860102.1:n.2002+270_2002+271insGATGCAGTTCAAAGTACCTTGAAG... | |
| XM_017004614.1:c.2002+270_2002+271insGATGCAGTTCAAAGTACCTTGAAGTG | XP_016860103.1:n.2002+270_2002+271insGATGCAGTTCAAAGTACCTTGAAG... | |
| XR_002959322.1:n.2093+270_2093+271insGATGCAGTTCAAAGTACCTTGAAGTG | ||
| NM_000465.4:c.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAGTG MANE Select | NP_000456.2:n.1903+270_1903+271insGATGCAGTTCAAAGTACCTTGAAGTG | |
| NM_001282543.2:c.1846+270_1846+271insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269472.1:n.1846+270_1846+271insGATGCAGTTCAAAGTACCTTGAAG... | |
| NM_001282545.2:c.550+270_550+271insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269474.1:n.550+270_550+271insGATGCAGTTCAAAGTACCTTGAAGTG... | |
| NM_001282548.2:c.493+270_493+271insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269477.1:n.493+270_493+271insGATGCAGTTCAAAGTACCTTGAAGTG... | |
| NM_001282549.2:c.365-14289_365-14288insGATGCAGTTCAAAGTACCTTGAAGTG | NP_001269478.1:n.365-14289_365-14288insGATGCAGTTCAAAGTACCTTGA... | |
| NR_104212.2:n.1868+270_1868+271insGATGCAGTTCAAAGTACCTTGAAGTG | ||
| NR_104215.2:n.1811+270_1811+271insGATGCAGTTCAAAGTACCTTGAAGTG | ||
| NR_104216.2:n.1067+270_1067+271insGATGCAGTTCAAAGTACCTTGAAGTG |