Linked Data
ClinVar Variation Id:
41336
ClinVar RCV Id:
RCV000034237
dbSNP Id:
rs312262775
ExAC:
15:44867119 C / CA
gnomAD v2:
15-44867119-C-CA
gnomAD v3:
15-44574921-C-CA
gnomAD v4:
15-44574921-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44574922dup , CM000677.2:g.44574922dup | GRCh38 |
| NC_000015.9:g.44867120dup , CM000677.1:g.44867120dup | GRCh37 |
| NC_000015.8:g.42654412dup | NCBI36 |
| NG_008885.1:g.93757dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559511.6:c.5867-4264dup | ENSP00000453246.2:n.5867-4264dup | |
| ENST00000561391.2:n.2214dup | ||
| ENST00000682065.1:c.5842dup | ENSP00000507025.1:p.Cys1948LeufsTer4 | |
| ENST00000682460.1:c.*2243dup | ENSP00000508334.1:n.*2243dup | |
| ENST00000682495.1:c.*2478dup | ENSP00000507166.1:n.*2478dup | |
| ENST00000682669.1:c.5785dup | ENSP00000507782.1:p.Cys1929LeufsTer4 | |
| ENST00000683186.1:c.*2749dup | ENSP00000507268.1:n.*2749dup | |
| ENST00000683496.1:c.5986dup | ENSP00000506968.1:p.Cys1996LeufsTer4 | |
| ENST00000683734.1:c.5867-1177dup | ENSP00000508319.1:n.5867-1177dup | |
| ENST00000683753.1:n.5032dup | ||
| ENST00000684038.1:c.*2406dup | ENSP00000507141.1:n.*2406dup | |
| ENST00000684235.1:c.5986dup | ENSP00000508295.1:p.Cys1996LeufsTer4 | |
| ENST00000684676.1:c.*135dup | ENSP00000506948.1:n.*135dup | |
| ENST00000261866.12:c.5986dup MANE Select | ENSP00000261866.7:p.Cys1996LeufsTer4 | |
| ENST00000261866.11:c.5986dup | ENSP00000261866.7:p.Cys1996LeufsTer4 | |
| ENST00000427534.6:c.5986dup | ENSP00000396110.2:p.Cys1996LeufsTer4 | |
| ENST00000535302.6:c.5867-2102dup | ENSP00000445278.2:n.5867-2102dup | |
| ENST00000558080.1:n.351dup | ||
| ENST00000558319.5:c.5986dup | ENSP00000453599.1:p.Cys1996LeufsTer4 | |
| ENST00000559511.5:c.715-4264dup | ||
| ENST00000559822.1:c.529dup | ||
| NM_001160227.1:c.5867-2102dup | NP_001153699.1:n.5867-2102dup | |
| NM_025137.3:c.5986dup | NP_079413.3:p.Cys1996LeufsTer4 | |
| XM_005254695.3:c.5728dup | XP_005254752.1:p.Cys1910LeufsTer4 | |
| XM_006720700.1:c.5842dup | XP_006720763.1:p.Cys1948LeufsTer4 | |
| XM_017022634.1:c.5986dup | XP_016878123.1:p.Cys1996LeufsTer4 | |
| XM_017022636.1:c.2863dup | XP_016878125.1:p.Cys955LeufsTer4 | |
| NM_025137.4:c.5986dup MANE Select | NP_079413.3:p.Cys1996LeufsTer4 | |
| NM_001160227.2:c.5867-2102dup | NP_001153699.1:n.5867-2102dup |