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_000006.12:g.154040970_154040972delinsGTT , CM000668.2:g.154040970_154040972delinsGTT | GRCh38 |
| NC_000006.11:g.154362105_154362107delinsGTT , CM000668.1:g.154362105_154362107delinsGTT | GRCh37 |
| NC_000006.10:g.154403798_154403800delinsGTT | NCBI36 |
| NG_021208.1:g.35470_35472delinsGTT | |
| NG_021208.2:g.35470_35472delinsGTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330432.12:c.290+1136_290+1138delinsGTT MANE Select | ENSP00000328264.7:n.290+1136_290+1138deli... | |
| ENST00000229768.9:c.290+1136_290+1138delinsGTT | ENSP00000229768.5:n.290+1136_290+1138deli... | |
| ENST00000330432.11:c.290+1136_290+1138delinsGTT | ENSP00000328264.7:n.290+1136_290+1138deli... | |
| ENST00000337049.8:c.290+1136_290+1138delinsGTT | ENSP00000338381.4:n.290+1136_290+1138deli... | |
| ENST00000360422.8:c.476+1136_476+1138delinsGTT | ENSP00000353598.5:n.476+1136_476+1138deli... | |
| ENST00000414028.6:c.290+1136_290+1138delinsGTT | ENSP00000399359.2:n.290+1136_290+1138deli... | |
| ENST00000419506.6:c.290+1136_290+1138delinsGTT | ENSP00000403549.2:n.290+1136_290+1138deli... | |
| ENST00000428397.6:c.290+1136_290+1138delinsGTT | ENSP00000411903.2:n.290+1136_290+1138deli... | |
| ENST00000434900.6:c.569+1136_569+1138delinsGTT | ENSP00000394624.2:n.569+1136_569+1138deli... | |
| ENST00000435918.6:c.290+1136_290+1138delinsGTT | ENSP00000413752.2:n.290+1136_290+1138deli... | |
| ENST00000452687.6:c.290+1136_290+1138delinsGTT | ENSP00000410497.2:n.290+1136_290+1138deli... | |
| ENST00000518759.5:c.47+30411_47+30413delinsGTT | ENSP00000430260.1:n.47+30411_47+30413deli... | |
| ENST00000519083.5:c.290+1136_290+1138delinsGTT | ENSP00000431048.1:n.290+1136_290+1138deli... | |
| ENST00000520282.5:c.434+1136_434+1138delinsGTT | ENSP00000430247.1:n.434+1136_434+1138deli... | |
| ENST00000520708.5:c.-11+29952_-11+29954delinsGTT | ENSP00000430876.1:n.-11+29952_-11+29954de... | |
| ENST00000522739.5:c.290+1136_290+1138delinsGTT | ENSP00000428018.1:n.290+1136_290+1138deli... | |
| ENST00000523520.1:n.471+1136_471+1138delinsGTT | ||
| ENST00000524150.2:c.290+1136_290+1138delinsGTT | ENSP00000430575.1:n.290+1136_290+1138deli... | |
| ENST00000524163.5:c.290+1136_290+1138delinsGTT | ENSP00000430097.1:n.290+1136_290+1138deli... | |
| NM_000914.4:c.290+1136_290+1138delinsGTT | NP_000905.3:n.290+1136_290+1138delinsGTT | |
| NM_001008503.2:c.290+1136_290+1138delinsGTT | NP_001008503.2:n.290+1136_290+1138delinsG... | |
| NM_001008504.3:c.290+1136_290+1138delinsGTT | NP_001008504.2:n.290+1136_290+1138delinsG... | |
| NM_001008505.2:c.290+1136_290+1138delinsGTT | NP_001008505.2:n.290+1136_290+1138delinsG... | |
| NM_001145279.3:c.569+1136_569+1138delinsGTT | NP_001138751.1:n.569+1136_569+1138delinsG... | |
| NM_001145280.3:c.-11+29952_-11+29954delinsGTT | NP_001138752.1:n.-11+29952_-11+29954delin... | |
| NM_001145281.2:c.47+30411_47+30413delinsGTT | NP_001138753.1:n.47+30411_47+30413delinsG... | |
| NM_001145282.2:c.290+1136_290+1138delinsGTT | NP_001138754.1:n.290+1136_290+1138delinsG... | |
| NM_001145283.2:c.290+1136_290+1138delinsGTT | NP_001138755.1:n.290+1136_290+1138delinsG... | |
| NM_001145284.3:c.290+1136_290+1138delinsGTT | NP_001138756.1:n.290+1136_290+1138delinsG... | |
| NM_001145285.2:c.290+1136_290+1138delinsGTT | NP_001138757.1:n.290+1136_290+1138delinsG... | |
| NM_001145286.2:c.290+1136_290+1138delinsGTT | NP_001138758.1:n.290+1136_290+1138delinsG... | |
| NM_001285522.1:c.290+1136_290+1138delinsGTT | NP_001272451.1:n.290+1136_290+1138delinsG... | |
| NM_001285523.1:c.290+1136_290+1138delinsGTT | NP_001272452.1:n.290+1136_290+1138delinsG... | |
| NM_001285524.1:c.569+1136_569+1138delinsGTT | NP_001272453.1:n.569+1136_569+1138delinsG... | |
| NR_104348.1:n.424+1136_424+1138delinsGTT | ||
| NR_104349.1:n.424+1136_424+1138delinsGTT | ||
| NR_104350.1:n.424+1136_424+1138delinsGTT | ||
| NR_104351.1:n.424+1136_424+1138delinsGTT | ||
| XM_006715497.2:c.476+1136_476+1138delinsGTT | XP_006715560.1:n.476+1136_476+1138delinsG... | |
| XM_011535849.1:c.569+1136_569+1138delinsGTT | XP_011534151.1:n.569+1136_569+1138delinsG... | |
| NM_001285523.2:c.290+1136_290+1138delinsGTT | NP_001272452.1:n.290+1136_290+1138delinsG... | |
| XM_017010907.2:c.476+1136_476+1138delinsGTT | XP_016866396.1:n.476+1136_476+1138delinsG... | |
| NM_000914.5:c.290+1136_290+1138delinsGTT MANE Select | NP_000905.3:n.290+1136_290+1138delinsGTT | |
| NM_001008503.3:c.290+1136_290+1138delinsGTT | NP_001008503.2:n.290+1136_290+1138delinsG... | |
| NM_001008504.4:c.290+1136_290+1138delinsGTT | NP_001008504.2:n.290+1136_290+1138delinsG... | |
| NM_001145279.4:c.569+1136_569+1138delinsGTT | NP_001138751.1:n.569+1136_569+1138delinsG... | |
| NM_001145280.4:c.-11+29952_-11+29954delinsGTT | NP_001138752.1:n.-11+29952_-11+29954delin... | |
| NM_001145281.3:c.47+30411_47+30413delinsGTT | NP_001138753.1:n.47+30411_47+30413delinsG... | |
| NM_001145285.3:c.290+1136_290+1138delinsGTT | NP_001138757.1:n.290+1136_290+1138delinsG... | |
| NM_001145286.3:c.290+1136_290+1138delinsGTT | NP_001138758.1:n.290+1136_290+1138delinsG... | |
| NM_001285523.3:c.290+1136_290+1138delinsGTT | NP_001272452.1:n.290+1136_290+1138delinsG... |