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_000004.12:g.9946737_9946738delinsAG , CM000666.2:g.9946737_9946738delinsAG | GRCh38 |
| NC_000004.11:g.9948361_9948362delinsAG , CM000666.1:g.9948361_9948362delinsAG | GRCh37 |
| NC_000004.10:g.9557459_9557460delinsAG | NCBI36 |
| NG_011540.1:g.98511_98512delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264784.8:c.682-4693_682-4692delinsCT MANE Select | ENSP00000264784.3:n.682-4693_682-4692deli... | |
| ENST00000264784.7:c.682-4693_682-4692delinsCT | ENSP00000264784.3:n.682-4693_682-4692deli... | |
| ENST00000309065.7:c.595-4693_595-4692delinsCT | ENSP00000311383.3:n.595-4693_595-4692deli... | |
| ENST00000505104.5:n.716-4693_716-4692delinsCT | ||
| ENST00000506583.5:c.595-4693_595-4692delinsCT | ENSP00000422209.1:n.595-4693_595-4692deli... | |
| NM_001001290.1:c.595-4693_595-4692delinsCT | NP_001001290.1:n.595-4693_595-4692delinsC... | |
| NM_020041.2:c.682-4693_682-4692delinsCT | NP_064425.2:n.682-4693_682-4692delinsCT | |
| XM_006713968.2:c.682-4693_682-4692delinsCT | XP_006714031.1:n.682-4693_682-4692delinsC... | |
| XM_006713969.2:c.595-4693_595-4692delinsCT | XP_006714032.1:n.595-4693_595-4692delinsC... | |
| XM_011513856.1:c.682-4693_682-4692delinsCT | XP_011512158.1:n.682-4693_682-4692delinsC... | |
| XM_011513857.1:c.595-4693_595-4692delinsCT | XP_011512159.1:n.595-4693_595-4692delinsC... | |
| XM_011513858.1:c.595-4693_595-4692delinsCT | XP_011512160.1:n.595-4693_595-4692delinsC... | |
| XM_011513859.1:c.682-4693_682-4692delinsCT | XP_011512161.1:n.682-4693_682-4692delinsC... | |
| XM_011513860.1:c.682-4693_682-4692delinsCT | XP_011512162.1:n.682-4693_682-4692delinsC... | |
| XM_011513861.1:c.682-4693_682-4692delinsCT | XP_011512163.1:n.682-4693_682-4692delinsC... | |
| XM_011513862.1:c.286-4693_286-4692delinsCT | XP_011512164.1:n.286-4693_286-4692delinsC... | |
| XM_011513863.1:c.286-4693_286-4692delinsCT | XP_011512165.1:n.286-4693_286-4692delinsC... | |
| XM_011513864.1:c.274-4693_274-4692delinsCT | XP_011512166.1:n.274-4693_274-4692delinsC... | |
| XM_011513865.1:c.682-4693_682-4692delinsCT | XP_011512167.1:n.682-4693_682-4692delinsC... | |
| XM_011513866.1:c.682-4693_682-4692delinsCT | XP_011512168.1:n.682-4693_682-4692delinsC... | |
| XM_011513867.1:c.124-4693_124-4692delinsCT | XP_011512169.1:n.124-4693_124-4692delinsC... | |
| XM_011513868.1:c.682-4693_682-4692delinsCT | XP_011512170.1:n.682-4693_682-4692delinsC... | |
| XR_925341.1:n.778-4693_778-4692delinsCT | ||
| XM_006713968.4:c.682-4693_682-4692delinsCT | XP_006714031.1:n.682-4693_682-4692delinsC... | |
| XM_011513856.3:c.682-4693_682-4692delinsCT | XP_011512158.1:n.682-4693_682-4692delinsC... | |
| XM_011513859.3:c.682-4693_682-4692delinsCT | XP_011512161.1:n.682-4693_682-4692delinsC... | |
| XM_011513860.3:c.682-4693_682-4692delinsCT | XP_011512162.1:n.682-4693_682-4692delinsC... | |
| XM_011513861.3:c.682-4693_682-4692delinsCT | XP_011512163.1:n.682-4693_682-4692delinsC... | |
| XM_011513862.3:c.286-4693_286-4692delinsCT | XP_011512164.1:n.286-4693_286-4692delinsC... | |
| XM_011513864.2:c.274-4693_274-4692delinsCT | XP_011512166.1:n.274-4693_274-4692delinsC... | |
| XM_011513865.2:c.682-4693_682-4692delinsCT | XP_011512167.1:n.682-4693_682-4692delinsC... | |
| XM_011513866.2:c.682-4693_682-4692delinsCT | XP_011512168.1:n.682-4693_682-4692delinsC... | |
| XM_011513867.3:c.124-4693_124-4692delinsCT | XP_011512169.1:n.124-4693_124-4692delinsC... | |
| XM_011513868.2:c.682-4693_682-4692delinsCT | XP_011512170.1:n.682-4693_682-4692delinsC... | |
| XM_017008457.2:c.682-4693_682-4692delinsCT | XP_016863946.1:n.682-4693_682-4692delinsC... | |
| XM_017008458.2:c.682-4693_682-4692delinsCT | XP_016863947.1:n.682-4693_682-4692delinsC... | |
| XM_017008459.1:c.220-4693_220-4692delinsCT | XP_016863948.1:n.220-4693_220-4692delinsC... | |
| XM_017008460.2:c.286-4693_286-4692delinsCT | XP_016863949.1:n.286-4693_286-4692delinsC... | |
| XM_024454150.1:c.682-4693_682-4692delinsCT | XP_024309918.1:n.682-4693_682-4692delinsC... | |
| XM_024454151.1:c.295-4693_295-4692delinsCT | XP_024309919.1:n.295-4693_295-4692delinsC... | |
| XM_024454152.1:c.682-4693_682-4692delinsCT | XP_024309920.1:n.682-4693_682-4692delinsC... | |
| XM_024454153.1:c.682-4693_682-4692delinsCT | XP_024309921.1:n.682-4693_682-4692delinsC... | |
| XR_001741290.1:n.855-4693_855-4692delinsCT | ||
| XR_001741291.1:n.855-4693_855-4692delinsCT | ||
| XR_925341.3:n.859-4693_859-4692delinsCT | ||
| NM_020041.3:c.682-4693_682-4692delinsCT MANE Select | NP_064425.2:n.682-4693_682-4692delinsCT | |
| NM_001001290.2:c.595-4693_595-4692delinsCT | NP_001001290.1:n.595-4693_595-4692delinsC... |