Linked Data
ClinVar Variation Id:
409827
dbSNP Id:
rs768793789
ExAC:
17:56774172 G / GC
gnomAD v2:
17-56774172-G-GC
gnomAD v4:
17-58696811-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58696813dup , CM000679.2:g.58696813dup | GRCh38 |
| NC_000017.10:g.56774174dup , CM000679.1:g.56774174dup | GRCh37 |
| NC_000017.9:g.54129173dup | NCBI36 |
| NG_023199.1:g.9212dup , LRG_314:g.9212dup | |
| NG_047169.1:g.268dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461271.6:c.174dup | ENSP00000464056.2:p.Cys59LeufsTer27 | |
| ENST00000697675.1:n.3122dup | ||
| ENST00000697676.1:n.585dup | ||
| ENST00000697677.1:n.1606dup | ||
| ENST00000697678.1:n.427dup | ||
| ENST00000697679.1:n.1599dup | ||
| ENST00000697680.1:c.*1389dup | ENSP00000513392.1:n.*1389dup | |
| ENST00000697681.1:c.*1416dup | ENSP00000513393.1:n.*1416dup | |
| ENST00000697683.1:c.*1389dup | ENSP00000513395.1:n.*1389dup | |
| ENST00000697684.1:n.585dup | ||
| ENST00000697685.1:c.*1268+1624dup | ENSP00000513396.1:n.*1268+1624dup | |
| ENST00000697686.1:c.174dup | ENSP00000513397.1:p.Cys59LeufsTer27 | |
| ENST00000697687.1:n.450+1624dup | ||
| ENST00000697688.1:n.571dup | ||
| ENST00000697689.1:c.*1107+1624dup | ENSP00000513398.1:n.*1107+1624dup | |
| ENST00000697690.1:c.525dup | ENSP00000513399.1:p.Cys176LeufsTer27 | |
| ENST00000697691.1:c.*497dup | ENSP00000513400.1:n.*497dup | |
| ENST00000697692.1:c.*537dup | ENSP00000513401.1:n.*537dup | |
| ENST00000697694.1:c.174dup | ENSP00000513402.1:p.Cys59LeufsTer27 | |
| ENST00000697695.1:n.1132dup | ||
| ENST00000337432.9:c.525dup MANE Select | ENSP00000336701.4:p.Cys176LeufsTer27 | |
| ENST00000337432.8:c.525dup | ENSP00000336701.4:p.Cys176LeufsTer27 | |
| ENST00000413590.5:c.163dup | ||
| ENST00000425173.5:c.321dup | ENSP00000407282.1:p.Cys108LeufsTer27 | |
| ENST00000461271.5:c.174dup | ENSP00000464056.1:p.Cys59LeufsTer27 | |
| ENST00000475762.5:c.*1228dup | ENSP00000432421.1:n.*1228dup | |
| ENST00000482007.5:c.404+1624dup | ENSP00000433332.1:n.404+1624dup | |
| ENST00000487525.5:c.404+1624dup | ENSP00000431637.1:n.404+1624dup | |
| ENST00000487921.5:n.437dup | ||
| ENST00000583539.5:c.525dup | ENSP00000463121.1:p.Cys176LeufsTer27 | |
| ENST00000584617.5:c.247dup | ||
| ENST00000622327.4:c.261dup | ENSP00000482326.1:p.Cys88LeufsTer? | |
| NM_058216.2:c.525dup | NP_478123.1:p.Cys176LeufsTer27 | |
| NR_103872.1:n.475+1624dup | ||
| XM_006722001.2:c.525dup | XP_006722064.1:p.Cys176LeufsTer27 | |
| XM_006722002.2:c.525dup | XP_006722065.1:p.Cys176LeufsTer27 | |
| XM_006722004.2:c.174dup | XP_006722067.1:p.Cys59LeufsTer27 | |
| XM_006722005.2:c.174dup | XP_006722068.1:p.Cys59LeufsTer27 | |
| XM_011525092.1:c.174dup | XP_011523394.1:p.Cys59LeufsTer27 | |
| XM_011525093.1:c.174dup | XP_011523395.1:p.Cys59LeufsTer27 | |
| XM_011525094.1:c.174dup | XP_011523396.1:p.Cys59LeufsTer27 | |
| XR_934513.1:n.598dup | ||
| XR_934514.1:n.598dup | ||
| XM_006722001.4:c.525dup | XP_006722064.1:p.Cys176LeufsTer27 | |
| XM_006722002.4:c.525dup | XP_006722065.1:p.Cys176LeufsTer27 | |
| XM_006722004.3:c.174dup | XP_006722067.1:p.Cys59LeufsTer27 | |
| XM_006722005.3:c.174dup | XP_006722068.1:p.Cys59LeufsTer27 | |
| XM_011525092.2:c.174dup | XP_011523394.1:p.Cys59LeufsTer27 | |
| XM_011525093.2:c.174dup | XP_011523395.1:p.Cys59LeufsTer27 | |
| XM_011525094.2:c.174dup | XP_011523396.1:p.Cys59LeufsTer27 | |
| XM_017024914.1:c.174dup | XP_016880403.1:p.Cys59LeufsTer27 | |
| XM_017024915.1:c.174dup | XP_016880404.1:p.Cys59LeufsTer27 | |
| XM_017024916.1:c.174dup | XP_016880405.1:p.Cys59LeufsTer27 | |
| XM_017024917.1:c.174dup | XP_016880406.1:p.Cys59LeufsTer27 | |
| XM_017024918.2:c.174dup | XP_016880407.1:p.Cys59LeufsTer27 | |
| XM_017024919.1:c.174dup | XP_016880408.1:p.Cys59LeufsTer27 | |
| XR_934513.3:n.1029dup | ||
| XR_934514.3:n.1029dup | ||
| NM_058216.3:c.525dup MANE Select | NP_478123.1:p.Cys176LeufsTer27 | |
| NR_103872.2:n.446+1624dup |