Linked Data
ClinVar Variation Id:
4081
dbSNP Id:
rs397515352
ExAC:
15:68504182 C / CG
gnomAD v2:
15-68504182-C-CG
gnomAD v4:
15-68211844-C-CG
COSMIC:
COSM1666095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211850dup , CM000677.2:g.68211850dup | GRCh38 |
| NC_000015.9:g.68504188dup , CM000677.1:g.68504188dup | GRCh37 |
| NC_000015.8:g.66291242dup | NCBI36 |
| NG_008764.2:g.50367dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.316dup MANE Select | ENSP00000249806.5:p.Arg106ProfsTer26 | |
| ENST00000562767.2:c.84-14217dup | ENSP00000456336.1:n.84-14217dup | |
| ENST00000563917.2:n.158dup | ||
| ENST00000565471.6:c.84-2086dup | ENSP00000457384.1:n.84-2086dup | |
| ENST00000635747.1:c.*219dup | ENSP00000490627.1:n.*219dup | |
| ENST00000636212.1:c.298-104dup | ENSP00000489851.1:n.298-104dup | |
| ENST00000636314.1:c.183-527dup | ENSP00000490295.1:n.183-527dup | |
| ENST00000636674.1:n.1299dup | ||
| ENST00000636964.1:n.1488dup | ||
| ENST00000637054.1:c.198+6691dup | ENSP00000490807.1:n.198+6691dup | |
| ENST00000637223.1:c.*201-527dup | ENSP00000490010.1:n.*201-527dup | |
| ENST00000637329.1:c.285dup | ||
| ENST00000637450.1:c.201dup | ENSP00000490204.1:p.Ala68ArgfsTer? | |
| ENST00000637494.1:c.199-527dup | ENSP00000490057.1:n.199-527dup | |
| ENST00000637667.1:c.217dup | ENSP00000489843.1:p.Arg73ProfsTer26 | |
| ENST00000637823.1:c.224-202dup | ||
| ENST00000637888.1:c.198+6691dup | ENSP00000490546.1:n.198+6691dup | |
| ENST00000638076.1:c.316dup | ENSP00000490373.1:p.Arg106ProfsTer26 | |
| ENST00000638144.1:n.130-527dup | ||
| ENST00000646164.1:c.38+6691dup | ||
| ENST00000249806.9:c.316dup | ENSP00000249806.5:p.Arg106ProfsTer26 | |
| ENST00000538696.5:c.412dup | ENSP00000445770.1:p.Arg138ProfsTer26 | |
| ENST00000562767.1:c.84-14217dup | ENSP00000456336.1:n.84-14217dup | |
| ENST00000563917.1:n.97dup | ||
| ENST00000564752.1:c.316dup | ENSP00000457822.1:p.Arg106ProfsTer26 | |
| ENST00000565471.5:c.84-2086dup | ENSP00000457384.1:n.84-2086dup | |
| ENST00000566347.5:c.298-527dup | ENSP00000457783.1:n.298-527dup | |
| ENST00000567060.5:c.298-2125dup | ENSP00000454818.1:n.298-2125dup | |
| NM_017882.2:c.316dup | NP_060352.1:p.Arg106ProfsTer26 | |
| XR_931861.1:n.419dup | ||
| NM_017882.3:c.316dup MANE Select | NP_060352.1:p.Arg106ProfsTer26 |