Linked Data
ClinVar Variation Id:
1180629
ClinVar RCV Id:
RCV001814358
dbSNP Id:
rs2141139300
gnomAD v3:
15-68211764-C-CA
gnomAD v4:
15-68211764-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211765dup , CM000677.2:g.68211765dup | GRCh38 |
| NC_000015.9:g.68504103dup , CM000677.1:g.68504103dup | GRCh37 |
| NC_000015.8:g.66291157dup | NCBI36 |
| NG_008764.2:g.50447dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.396dup MANE Select | ENSP00000249806.5:p.Val133CysfsTer18 | |
| ENST00000562767.2:c.84-14137dup | ENSP00000456336.1:n.84-14137dup | |
| ENST00000563917.2:n.238dup | ||
| ENST00000565471.6:c.84-2006dup | ENSP00000457384.1:n.84-2006dup | |
| ENST00000635747.1:c.*299dup | ENSP00000490627.1:n.*299dup | |
| ENST00000636212.1:c.298-24dup | ENSP00000489851.1:n.298-24dup | |
| ENST00000636314.1:c.183-447dup | ENSP00000490295.1:n.183-447dup | |
| ENST00000636674.1:n.1379dup | ||
| ENST00000636964.1:n.1568dup | ||
| ENST00000637054.1:c.198+6771dup | ENSP00000490807.1:n.198+6771dup | |
| ENST00000637223.1:c.*201-447dup | ENSP00000490010.1:n.*201-447dup | |
| ENST00000637329.1:c.365dup | ||
| ENST00000637450.1:c.*50dup | ENSP00000490204.1:n.*50dup | |
| ENST00000637494.1:c.199-447dup | ENSP00000490057.1:n.199-447dup | |
| ENST00000637667.1:c.297dup | ENSP00000489843.1:p.Val100CysfsTer18 | |
| ENST00000637823.1:c.224-122dup | ||
| ENST00000637888.1:c.198+6771dup | ENSP00000490546.1:n.198+6771dup | |
| ENST00000638076.1:c.396dup | ENSP00000490373.1:p.Val133CysfsTer18 | |
| ENST00000638144.1:n.130-447dup | ||
| ENST00000646164.1:c.38+6771dup | ||
| ENST00000249806.9:c.396dup | ENSP00000249806.5:p.Val133CysfsTer18 | |
| ENST00000538696.5:c.492dup | ENSP00000445770.1:p.Val165CysfsTer18 | |
| ENST00000562767.1:c.84-14137dup | ENSP00000456336.1:n.84-14137dup | |
| ENST00000563917.1:n.177dup | ||
| ENST00000564752.1:c.396dup | ENSP00000457822.1:p.Val133CysfsTer18 | |
| ENST00000565471.5:c.84-2006dup | ENSP00000457384.1:n.84-2006dup | |
| ENST00000566347.5:c.298-447dup | ENSP00000457783.1:n.298-447dup | |
| ENST00000567060.5:c.298-2045dup | ENSP00000454818.1:n.298-2045dup | |
| NM_017882.2:c.396dup | NP_060352.1:p.Val133CysfsTer18 | |
| XR_931861.1:n.499dup | ||
| NM_017882.3:c.396dup MANE Select | NP_060352.1:p.Val133CysfsTer18 |