Linked Data
ClinVar Variation Id:
523658
ClinVar RCV Id:
RCV000627085
dbSNP Id:
rs1553738605
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49032716dup , CM000665.2:g.49032716dup | GRCh38 |
| NC_000003.11:g.49070149dup , CM000665.1:g.49070149dup | GRCh37 |
| NC_000003.10:g.49045153dup | NCBI36 |
| NG_012091.1:g.1727dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411682.2:c.1953dup | ENSP00000412870.2:p.Arg652AlafsTer9 | |
| ENST00000703871.1:c.1953dup | ENSP00000515516.1:p.Arg652AlafsTer9 | |
| ENST00000703872.1:c.*785dup | ENSP00000515517.1:n.*785dup | |
| ENST00000703873.1:c.924dup | ENSP00000515518.1:p.Arg309AlafsTer9 | |
| ENST00000703936.1:c.1953dup | ENSP00000515567.1:p.Arg652AlafsTer9 | |
| ENST00000703937.1:c.1200dup | ENSP00000515568.1:p.Arg401AlafsTer9 | |
| ENST00000703938.1:c.*275dup | ENSP00000515569.1:n.*275dup | |
| ENST00000703939.1:c.*726dup | ENSP00000515570.1:n.*726dup | |
| ENST00000703940.1:c.*577dup | ENSP00000515571.1:n.*577dup | |
| ENST00000703941.1:c.*614dup | ENSP00000515572.1:n.*614dup | |
| ENST00000703942.1:c.1953dup | ENSP00000515573.1:p.Arg652AlafsTer9 | |
| ENST00000703943.1:c.*646dup | ENSP00000515574.1:n.*646dup | |
| ENST00000395443.7:c.1953dup MANE Select | ENSP00000378830.2:p.Arg652AlafsTer9 | |
| ENST00000357496.6:c.1953dup | ENSP00000350094.2:p.Arg652AlafsTer9 | |
| ENST00000395443.6:c.1953dup | ENSP00000378830.2:p.Arg652AlafsTer9 | |
| ENST00000424300.5:c.1953dup | ENSP00000412890.1:p.Arg652AlafsTer9 | |
| ENST00000469910.1:n.107dup | ||
| ENST00000477021.1:n.361dup | ||
| ENST00000489642.5:n.566dup | ||
| ENST00000498392.1:n.1115dup | ||
| NM_017730.2:c.1953dup | NP_060200.2:p.Arg652AlafsTer9 | |
| NM_198880.1:c.1953dup | NP_942581.1:p.Arg652AlafsTer9 | |
| XM_005265248.3:c.1953dup | XP_005265305.1:p.Arg652AlafsTer9 | |
| XM_006713212.2:c.1953dup | XP_006713275.1:p.Arg652AlafsTer9 | |
| XM_011533862.1:c.1953dup | XP_011532164.1:p.Arg652AlafsTer9 | |
| XM_011533863.1:c.1953dup | XP_011532165.1:p.Arg652AlafsTer9 | |
| NM_001320580.1:c.1953dup | NP_001307509.1:p.Arg652AlafsTer9 | |
| NM_001320581.1:c.1953dup | NP_001307510.1:p.Arg652AlafsTer9 | |
| NM_001320582.1:c.1953dup | NP_001307511.1:p.Arg652AlafsTer9 | |
| NM_001320583.1:c.1953dup | NP_001307512.1:p.Arg652AlafsTer9 | |
| NM_001320584.1:c.1953dup | NP_001307513.1:p.Arg652AlafsTer9 | |
| NM_001320585.1:c.1953dup | NP_001307514.1:p.Arg652AlafsTer9 | |
| NM_017730.3:c.1953dup | NP_060200.2:p.Arg652AlafsTer9 | |
| NM_198880.2:c.1953dup | NP_942581.1:p.Arg652AlafsTer9 | |
| NM_198880.3:c.1953dup MANE Select | NP_942581.1:p.Arg652AlafsTer9 | |
| NM_001320580.2:c.1953dup | NP_001307509.1:p.Arg652AlafsTer9 | |
| NM_001320581.2:c.1953dup | NP_001307510.1:p.Arg652AlafsTer9 | |
| NM_001320582.2:c.1953dup | NP_001307511.1:p.Arg652AlafsTer9 | |
| NM_001320583.2:c.1953dup | NP_001307512.1:p.Arg652AlafsTer9 | |
| NM_017730.4:c.1953dup | NP_060200.2:p.Arg652AlafsTer9 |