Linked Data
ClinVar Variation Id:
41030
ClinVar RCV Id:
RCV000033927
dbSNP Id:
rs281865067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350544_63350546dup , CM000682.2:g.63350544_63350546dup | GRCh38 |
| NC_000020.10:g.61981896_61981898dup , CM000682.1:g.61981896_61981898dup | GRCh37 |
| NC_000020.9:g.61452340_61452342dup | NCBI36 |
| NG_011931.1:g.15803_15805dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370263.9:c.870_872dup MANE Select | ENSP00000359285.4:p.Leu291_Ile292insLeu | |
| ENST00000370263.8:c.870_872dup | ENSP00000359285.4:p.Leu291_Ile292insLeu | |
| ENST00000463705.5:n.1518_1520dup | ||
| ENST00000467563.3:n.940_942dup | ||
| ENST00000498043.6:c.894_896dup | ||
| ENST00000615287.4:c.657_659dup | ENSP00000483388.1:p.Leu220_Ile221insLeu | |
| ENST00000627000.1:c.*559_*561dup | ENSP00000486914.1:n.*559_*561dup | |
| ENST00000630240.1:n.591_593dup | ||
| NM_000744.6:c.870_872dup | NP_000735.1:p.Leu291_Ile292insLeu | |
| NM_001256573.1:c.342_344dup | NP_001243502.1:p.Leu115_Ile116insLeu | |
| NR_046317.1:n.1126_1128dup | ||
| XM_011528524.1:c.657_659dup | XP_011526826.1:p.Leu220_Ile221insLeu | |
| XM_017027625.2:c.342_344dup | XP_016883114.1:p.Leu115_Ile116insLeu | |
| XM_024451822.1:c.342_344dup | XP_024307590.1:p.Leu115_Ile116insLeu | |
| NM_001256573.2:c.342_344dup | NP_001243502.1:p.Leu115_Ile116insLeu | |
| NR_046317.2:n.1079_1081dup | ||
| NM_000744.7:c.870_872dup MANE Select | NP_000735.1:p.Leu291_Ile292insLeu |