Linked Data
ClinVar Variation Id:
55814
ClinVar RCV Id:
RCV000049239
dbSNP Id:
rs397509398
gnomAD v3:
19-11235631-G-GA
gnomAD v4:
19-11235631-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11235634dup , CM000681.2:g.11235634dup | GRCh38 |
| NC_000019.9:g.11346310dup , CM000681.1:g.11346310dup | GRCh37 |
| NC_000019.8:g.11207310dup | NCBI36 |
| NG_031953.1:g.31861dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.2520dup | ENSP00000468638.2:p.Arg841SerfsTer6 | |
| ENST00000294618.12:c.2520dup MANE Select | ENSP00000294618.6:p.Arg841SerfsTer6 | |
| ENST00000294618.11:c.2520dup | ENSP00000294618.6:p.Arg841SerfsTer6 | |
| ENST00000585904.1:c.123dup | ENSP00000465767.1:p.Arg42SerfsTer6 | |
| ENST00000587656.5:c.280dup | ||
| ENST00000590680.5:c.863dup | ||
| NM_020812.3:c.2520dup | NP_065863.2:p.Arg841SerfsTer6 | |
| XM_005260000.2:c.2520dup | XP_005260057.1:p.Arg841SerfsTer6 | |
| XM_005260001.2:c.2520dup | XP_005260058.1:p.Arg841SerfsTer6 | |
| XM_011528150.1:c.2553dup | XP_011526452.1:p.Arg852SerfsTer6 | |
| XM_011528151.1:c.2553dup | XP_011526453.1:p.Arg852SerfsTer6 | |
| XM_011528152.1:c.2553dup | XP_011526454.1:p.Arg852SerfsTer6 | |
| XM_011528153.1:c.2553dup | XP_011526455.1:p.Arg852SerfsTer6 | |
| XR_936195.1:n.2614dup | ||
| XR_936196.1:n.2614dup | ||
| XR_936197.1:n.2614dup | ||
| XR_936198.1:n.2614dup | ||
| NM_001367830.1:c.2520dup | NP_001354759.1:p.Arg841SerfsTer6 | |
| NM_020812.4:c.2520dup MANE Select | NP_065863.2:p.Arg841SerfsTer6 |