Linked Data
ClinVar Variation Id:
224138
ClinVar RCV Id:
RCV000209841
dbSNP Id:
rs869312699
MyVariant Identifiers:
chr11:g.120856811_120856825delinsGCT (hg19)
chr11:g.120986102_120986116delinsGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120986102_120986116delinsGCT , CM000673.2:g.120986102_120986116delinsGCT | GRCh38 |
| NC_000011.9:g.120856811_120856825delinsGCT , CM000673.1:g.120856811_120856825delinsGCT | GRCh37 |
| NC_000011.8:g.120362021_120362035delinsGCT | NCBI36 |
| NG_042194.1:g.479357_479371delinsGCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527524.8:c.2713_2727delinsGCT MANE Select | ENSP00000435648.2:p.Leu905_Glu908del | |
| ENST00000638419.1:c.2713_2727delinsGCT | ENSP00000492086.1:p.Leu905_Glu908del | |
| ENST00000438375.2:c.2713_2727delinsGCT | ENSP00000404063.2:p.Leu905_Glu908del | |
| ENST00000527524.6:c.2713_2727delinsGCT | ENSP00000435648.1:p.Leu905_Glu908del | |
| NM_001282470.2:c.2713_2727delinsGCT | NP_001269399.1:p.Leu905_Glu908del | |
| NM_014619.4:c.2713_2727delinsGCT | NP_055434.2:p.Leu905_Glu908del | |
| XM_011542783.1:c.2929_2943delinsGCT | XP_011541085.1:p.Leu977_Glu980del | |
| XM_011542784.1:c.2551_2565delinsGCT | XP_011541086.1:p.Leu851_Glu854del | |
| XM_011542786.1:c.1987_2001delinsGCT | XP_011541088.1:p.Leu663_Glu666del | |
| XM_011542787.1:c.1951_1965delinsGCT | XP_011541089.1:p.Leu651_Glu654del | |
| XM_011542788.1:c.1951_1965delinsGCT | XP_011541090.1:p.Leu651_Glu654del | |
| XM_011542784.2:c.2551_2565delinsGCT | XP_011541086.1:p.Leu851_Glu854del | |
| XM_011542786.2:c.1987_2001delinsGCT | XP_011541088.1:p.Leu663_Glu666del | |
| XM_011542787.2:c.1951_1965delinsGCT | XP_011541089.1:p.Leu651_Glu654del | |
| XM_017017621.2:c.2539_2553delinsGCT | XP_016873110.1:p.Leu847_Glu850del | |
| XM_017017622.2:c.2509_2523delinsGCT | XP_016873111.1:p.Leu837_Glu840del | |
| NM_014619.5:c.2713_2727delinsGCT MANE Select | NP_055434.2:p.Leu905_Glu908del | |
| NM_001282470.3:c.2713_2727delinsGCT | NP_001269399.1:p.Leu905_Glu908del |