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_000011.10:g.119089160_119089161delinsTC , CM000673.2:g.119089160_119089161delinsTC | GRCh38 |
| NC_000011.9:g.118959870_118959871delinsTC , CM000673.1:g.118959870_118959871delinsTC | GRCh37 |
| NC_000011.8:g.118465080_118465081delinsTC | NCBI36 |
| NG_008093.1:g.9284_9285delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.45+29_45+30delinsTC | ENSP00000509288.1:n.45+29_45+30delinsTC | |
| ENST00000686690.1:n.775_776delinsTC | ||
| ENST00000691144.1:n.1895_1896delinsTC | ||
| ENST00000691249.1:n.794+29_794+30delinsTC | ||
| ENST00000442944.7:c.192+29_192+30delinsTC | ENSP00000392041.3:n.192+29_192+30delinsTC... | |
| ENST00000534956.2:n.159+29_159+30delinsTC | ||
| ENST00000536813.6:c.159+29_159+30delinsTC | ENSP00000438726.2:n.159+29_159+30delinsTC... | |
| ENST00000546302.6:c.210+29_210+30delinsTC | ENSP00000445599.1:n.210+29_210+30delinsTC... | |
| ENST00000640813.1:c.159+29_159+30delinsTC | ENSP00000491061.1:n.159+29_159+30delinsTC... | |
| ENST00000648026.1:c.204+29_204+30delinsTC | ENSP00000498044.1:n.204+29_204+30delinsTC... | |
| ENST00000648374.1:c.159+29_159+30delinsTC | ENSP00000497255.1:n.159+29_159+30delinsTC... | |
| ENST00000648488.1:c.159+29_159+30delinsTC | ENSP00000498079.1:n.159+29_159+30delinsTC... | |
| ENST00000649823.1:n.427+29_427+30delinsTC | ||
| ENST00000649868.1:c.65+29_65+30delinsTC | ENSP00000497548.1:n.65+29_65+30delinsTC | |
| ENST00000650101.1:c.141+29_141+30delinsTC | ENSP00000496970.1:n.141+29_141+30delinsTC... | |
| ENST00000650307.1:n.1036+29_1036+30delinsTC | ||
| ENST00000652429.1:c.210+29_210+30delinsTC MANE Select | ENSP00000498786.1:n.210+29_210+30delinsTC... | |
| ENST00000278715.7:c.210+29_210+30delinsTC | ENSP00000278715.3:n.210+29_210+30delinsTC... | |
| ENST00000392841.1:c.159+29_159+30delinsTC | ENSP00000376584.1:n.159+29_159+30delinsTC... | |
| ENST00000442944.6:c.159+29_159+30delinsTC | ENSP00000392041.2:n.159+29_159+30delinsTC... | |
| ENST00000534956.1:n.126+29_126+30delinsTC | ||
| ENST00000535253.5:c.159+29_159+30delinsTC | ENSP00000442079.1:n.159+29_159+30delinsTC... | |
| ENST00000535793.5:c.*105+29_*105+30delinsTC | ENSP00000439904.1:n.*105+29_*105+30delins... | |
| ENST00000536185.5:n.329-57_329-56delinsTC | ||
| ENST00000536813.5:c.192+29_192+30delinsTC | ENSP00000438726.1:n.192+29_192+30delinsTC... | |
| ENST00000537841.5:c.159+29_159+30delinsTC | ENSP00000444730.1:n.159+29_159+30delinsTC... | |
| ENST00000539986.5:c.159+29_159+30delinsTC | ENSP00000440092.1:n.159+29_159+30delinsTC... | |
| ENST00000542044.5:n.655+29_655+30delinsTC | ||
| ENST00000542345.5:n.348+29_348+30delinsTC | ||
| ENST00000542729.5:c.159+29_159+30delinsTC | ENSP00000443058.1:n.159+29_159+30delinsTC... | |
| ENST00000542822.5:c.*147-57_*147-56delinsTC | ENSP00000444817.1:n.*147-57_*147-56delins... | |
| ENST00000543090.5:c.156+29_156+30delinsTC | ENSP00000445429.1:n.156+29_156+30delinsTC... | |
| ENST00000543543.5:n.445+29_445+30delinsTC | ||
| ENST00000543821.5:n.356+29_356+30delinsTC | ||
| ENST00000544360.5:n.178+29_178+30delinsTC | ||
| ENST00000544387.5:c.210+29_210+30delinsTC | ENSP00000438424.1:n.210+29_210+30delinsTC... | |
| ENST00000545621.5:c.*105+29_*105+30delinsTC | ENSP00000444849.1:n.*105+29_*105+30delins... | |
| ENST00000546226.5:n.269+29_269+30delinsTC | ||
| ENST00000546302.5:c.210+29_210+30delinsTC | ENSP00000445599.1:n.210+29_210+30delinsTC... | |
| NM_000190.3:c.210+29_210+30delinsTC | NP_000181.2:n.210+29_210+30delinsTC | |
| NM_001024382.1:c.159+29_159+30delinsTC | NP_001019553.1:n.159+29_159+30delinsTC | |
| NM_001258208.1:c.210+29_210+30delinsTC | NP_001245137.1:n.210+29_210+30delinsTC | |
| NM_001258209.1:c.159+29_159+30delinsTC | NP_001245138.1:n.159+29_159+30delinsTC | |
| XM_005271531.1:c.159+29_159+30delinsTC | XP_005271588.1:n.159+29_159+30delinsTC | |
| XM_005271532.1:c.159+29_159+30delinsTC | XP_005271589.1:n.159+29_159+30delinsTC | |
| XM_005271533.2:c.156+29_156+30delinsTC | XP_005271590.1:n.156+29_156+30delinsTC | |
| XM_011542796.1:c.45+29_45+30delinsTC | XP_011541098.1:n.45+29_45+30delinsTC | |
| NM_000190.4:c.210+29_210+30delinsTC MANE Select | NP_000181.2:n.210+29_210+30delinsTC | |
| NM_001024382.2:c.159+29_159+30delinsTC | NP_001019553.1:n.159+29_159+30delinsTC | |
| XM_005271533.3:c.156+29_156+30delinsTC | XP_005271590.1:n.156+29_156+30delinsTC | |
| XM_017017629.1:c.159+29_159+30delinsTC | XP_016873118.1:n.159+29_159+30delinsTC | |
| XM_024448460.1:c.156+29_156+30delinsTC | XP_024304228.1:n.156+29_156+30delinsTC | |
| NM_001258208.2:c.210+29_210+30delinsTC | NP_001245137.1:n.210+29_210+30delinsTC | |
| NM_001258209.2:c.159+29_159+30delinsTC | NP_001245138.1:n.159+29_159+30delinsTC |