Linked Data
ClinVar Variation Id:
417917
ClinVar RCV Id:
RCV000477936
dbSNP Id:
rs1060499596
ERepo:
CA16616934/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224381dup , CM000679.2:g.7224381dup | GRCh38 |
| NC_000017.10:g.7127700dup , CM000679.1:g.7127700dup | GRCh37 |
| NC_000017.9:g.7068424dup | NCBI36 |
| NG_007975.1:g.9548dup | |
| NG_008391.2:g.671dup | |
| NG_033038.1:g.15165dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1593dup MANE Select | ENSP00000349297.5:p.Ser532GlufsTer30 | |
| ENST00000322910.9:c.*1548dup | ENSP00000325395.5:n.*1548dup | |
| ENST00000350303.9:c.1527dup | ENSP00000344152.5:p.Ser510GlufsTer30 | |
| ENST00000356839.9:c.1593dup | ENSP00000349297.5:p.Ser532GlufsTer30 | |
| ENST00000542255.6:c.451dup | ||
| ENST00000543245.6:c.1662dup | ENSP00000438689.2:p.Ser555GlufsTer30 | |
| ENST00000578319.5:n.88dup | ||
| ENST00000578711.1:n.877dup | ||
| ENST00000578809.5:n.165dup | ||
| ENST00000579391.1:n.201dup | ||
| ENST00000579425.5:n.709dup | ||
| ENST00000579546.1:c.332dup | ||
| ENST00000579894.5:n.380dup | ||
| ENST00000582450.1:n.101dup | ||
| ENST00000583074.5:n.214dup | ||
| ENST00000583850.5:n.368dup | ||
| ENST00000583858.5:c.524dup | ||
| ENST00000585203.6:n.784dup | ||
| NM_000018.3:c.1593dup | NP_000009.1:p.Ser532GlufsTer30 | |
| NM_001033859.2:c.1527dup | NP_001029031.1:p.Ser510GlufsTer30 | |
| NM_001270447.1:c.1662dup | NP_001257376.1:p.Ser555GlufsTer30 | |
| NM_001270448.1:c.1365dup | NP_001257377.1:p.Ser456GlufsTer30 | |
| XM_006721516.2:c.1593dup | XP_006721579.2:p.Ser532GlufsTer30 | |
| XM_011523829.1:c.1495dup | XP_011522131.1:p.Glu499GlyfsTer29 | |
| XM_011523830.1:c.1495dup | XP_011522132.1:p.Glu499GlyfsTer29 | |
| XR_934021.1:n.1700dup | ||
| XR_934022.1:n.1602dup | ||
| XR_934023.1:n.1602dup | ||
| XM_006721516.3:c.1593dup | XP_006721579.2:p.Ser532GlufsTer30 | |
| XM_011523829.2:c.1495dup | XP_011522131.1:p.Glu499GlyfsTer29 | |
| XM_011523830.2:c.1495dup | XP_011522132.1:p.Glu499GlyfsTer29 | |
| XM_024450741.1:c.1495dup | XP_024306509.1:p.Glu499GlyfsTer6 | |
| XR_934021.2:n.1652dup | ||
| XR_934022.2:n.1554dup | ||
| XR_934023.2:n.1554dup | ||
| NM_000018.4:c.1593dup MANE Select | NP_000009.1:p.Ser532GlufsTer30 | |
| NM_001033859.3:c.1527dup | NP_001029031.1:p.Ser510GlufsTer30 | |
| NM_001270447.2:c.1662dup | NP_001257376.1:p.Ser555GlufsTer30 | |
| NM_001270448.2:c.1365dup | NP_001257377.1:p.Ser456GlufsTer30 |