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.227007481_227007482delinsTC , CM000664.2:g.227007481_227007482delinsTC | GRCh38 |
| NC_000002.11:g.227872197_227872198delinsTC , CM000664.1:g.227872197_227872198delinsTC | GRCh37 |
| NC_000002.10:g.227580441_227580442delinsTC | NCBI36 |
| NG_011592.1:g.162078_162079delinsGA , LRG_231:g.162078_162079delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682098.1:c.518_519delinsGA | ENSP00000508331.1:p.Gly173= | |
| ENST00000396625.5:c.4916_4917delinsGA MANE Select | ENSP00000379866.3:p.Gly1639= | |
| ENST00000396625.3:c.4916_4917delinsGA | ENSP00000379866.3:p.Gly1639= | |
| NM_000092.4:c.4916_4917delinsGA , LRG_231t1:c.4916_4917delinsGA | NP_000083.3:p.Gly1639= | |
| XM_005246281.2:c.4916_4917delinsGA | XP_005246338.1:p.Gly1639= | |
| XM_005246282.2:c.4361_4362delinsGA | XP_005246339.1:p.Gly1454= | |
| XM_006712246.2:c.4727_4728delinsGA | XP_006712309.1:p.Gly1576= | |
| XM_006712249.2:c.4809+536_4809+537delinsGA | XP_006712312.1:n.4809+536_4809+537delinsG... | |
| XM_006712252.2:c.4216+14566_4216+14567delinsGA | XP_006712315.1:n.4216+14566_4216+14567del... | |
| XM_011510557.1:c.4835_4836delinsGA | XP_011508859.1:p.Gly1612= | |
| XM_011510558.1:c.4808_4809delinsGA | XP_011508860.1:p.Gly1603= | |
| XM_011510559.1:c.4809+536_4809+537delinsGA | XP_011508861.1:n.4809+536_4809+537delinsG... | |
| XM_011510560.1:c.4809+536_4809+537delinsGA | XP_011508862.1:n.4809+536_4809+537delinsG... | |
| XM_011510561.1:c.4809+536_4809+537delinsGA | XP_011508863.1:n.4809+536_4809+537delinsG... | |
| XM_011510562.1:c.4809+536_4809+537delinsGA | XP_011508864.1:n.4809+536_4809+537delinsG... | |
| XM_011510563.1:c.*678_*679delinsGA | XP_011508865.1:n.*678_*679delinsGA | |
| XM_011510564.1:c.*678_*679delinsGA | XP_011508866.1:n.*678_*679delinsGA | |
| XM_011510565.1:c.4216+14566_4216+14567delinsGA | XP_011508867.1:n.4216+14566_4216+14567del... | |
| XM_011510566.1:c.4216+14566_4216+14567delinsGA | XP_011508868.1:n.4216+14566_4216+14567del... | |
| XM_011510567.1:c.4216+14566_4216+14567delinsGA | XP_011508869.1:n.4216+14566_4216+14567del... | |
| XM_011510569.1:c.4216+14566_4216+14567delinsGA | XP_011508871.1:n.4216+14566_4216+14567del... | |
| XM_011510570.1:c.4216+14566_4216+14567delinsGA | XP_011508872.1:n.4216+14566_4216+14567del... | |
| XM_011510571.1:c.4216+14566_4216+14567delinsGA | XP_011508873.1:n.4216+14566_4216+14567del... | |
| XM_011510572.1:c.3242_3243delinsGA | XP_011508874.1:p.Gly1081= | |
| XR_922837.1:n.5119+536_5119+537delinsGA | ||
| XR_922838.1:n.5119+536_5119+537delinsGA | ||
| XR_922839.1:n.4526+14566_4526+14567delinsGA | ||
| XR_922840.1:n.4526+14566_4526+14567delinsGA | ||
| XM_005246281.3:c.4916_4917delinsGA | XP_005246338.1:p.Gly1639= | |
| XM_005246282.3:c.4361_4362delinsGA | XP_005246339.1:p.Gly1454= | |
| XM_006712246.3:c.4727_4728delinsGA | XP_006712309.1:p.Gly1576= | |
| XM_011510557.2:c.4835_4836delinsGA | XP_011508859.1:p.Gly1612= | |
| XM_011510558.2:c.4808_4809delinsGA | XP_011508860.1:p.Gly1603= | |
| XM_011510559.2:c.4809+536_4809+537delinsGA | XP_011508861.1:n.4809+536_4809+537delinsG... | |
| XM_011510560.2:c.4809+536_4809+537delinsGA | XP_011508862.1:n.4809+536_4809+537delinsG... | |
| XM_011510561.2:c.4809+536_4809+537delinsGA | XP_011508863.1:n.4809+536_4809+537delinsG... | |
| XM_011510562.2:c.4809+536_4809+537delinsGA | XP_011508864.1:n.4809+536_4809+537delinsG... | |
| XM_011510565.2:c.4216+14566_4216+14567delinsGA | XP_011508867.1:n.4216+14566_4216+14567del... | |
| XM_011510566.2:c.4216+14566_4216+14567delinsGA | XP_011508868.1:n.4216+14566_4216+14567del... | |
| XM_011510567.2:c.4216+14566_4216+14567delinsGA | XP_011508869.1:n.4216+14566_4216+14567del... | |
| XM_011510569.2:c.4216+14566_4216+14567delinsGA | XP_011508871.1:n.4216+14566_4216+14567del... | |
| XM_011510570.2:c.4216+14566_4216+14567delinsGA | XP_011508872.1:n.4216+14566_4216+14567del... | |
| XM_011510572.3:c.3242_3243delinsGA | XP_011508874.1:p.Gly1081= | |
| XM_017003296.1:c.*365_*366delinsGA | XP_016858785.1:n.*365_*366delinsGA | |
| XM_017003297.1:c.4799_4800delinsGA | XP_016858786.1:p.Gly1600= | |
| XM_017003298.1:c.4809+536_4809+537delinsGA | XP_016858787.1:n.4809+536_4809+537delinsG... | |
| XM_017003300.1:c.4216+14566_4216+14567delinsGA | XP_016858789.1:n.4216+14566_4216+14567del... | |
| XR_001738602.1:n.5135+536_5135+537delinsGA | ||
| XR_001738603.1:n.5135+536_5135+537delinsGA | ||
| XR_001738604.1:n.4988_4989delinsGA | ||
| XR_001738606.1:n.4542+14566_4542+14567delinsGA | ||
| XR_001738607.1:n.4542+14566_4542+14567delinsGA | ||
| XR_922837.2:n.5135+536_5135+537delinsGA | ||
| NM_000092.5:c.4916_4917delinsGA MANE Select | NP_000083.3:p.Gly1639= |