Linked Data
ClinVar Variation Id:
354953
ClinVar RCV Id:
RCV000401585
dbSNP Id:
rs74900179
gnomAD v3:
6-108042852-C-CA
gnomAD v4:
6-108042852-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108042859dup , CM000668.2:g.108042859dup | GRCh38 |
| NC_000006.11:g.108364063dup , CM000668.1:g.108364063dup | GRCh37 |
| NC_000006.10:g.108470756dup | NCBI36 |
| NG_007262.1:g.36885dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467960.2:c.*2647dup | ENSP00000514449.1:n.*2647dup | |
| ENST00000477774.2:n.2291dup | ||
| ENST00000492130.2:c.*1932dup | ENSP00000514453.1:n.*1932dup | |
| ENST00000699569.1:c.*1932dup | ENSP00000514443.1:n.*1932dup | |
| ENST00000699570.1:n.3391dup | ||
| ENST00000699571.1:n.2653dup | ||
| ENST00000699572.1:c.*2164dup | ENSP00000514444.1:n.*2164dup | |
| ENST00000699573.1:c.*1932dup | ENSP00000514445.1:n.*1932dup | |
| ENST00000699574.1:c.*2781dup | ENSP00000514446.1:n.*2781dup | |
| ENST00000699575.1:c.*2645dup | ENSP00000514447.1:n.*2645dup | |
| ENST00000699576.1:c.*2638dup | ENSP00000514448.1:n.*2638dup | |
| ENST00000699577.1:c.*1932dup | ENSP00000514450.1:n.*1932dup | |
| ENST00000699578.1:c.*2164dup | ENSP00000514451.1:n.*2164dup | |
| ENST00000699579.1:c.*2095dup | ENSP00000514452.1:n.*2095dup | |
| ENST00000699580.1:c.*1932dup | ENSP00000514454.1:n.*1932dup | |
| ENST00000699581.1:c.*1932dup | ENSP00000514455.1:n.*1932dup | |
| ENST00000193322.8:c.*1932dup MANE Select | ENSP00000193322.3:n.*1932dup | |
| ENST00000193322.7:c.*1932dup | ENSP00000193322.3:n.*1932dup | |
| ENST00000492130.1:n.1386dup | ||
| NM_014028.3:c.*1932dup | NP_054747.2:n.*1932dup | |
| XM_011535775.1:c.*1932dup | XP_011534077.1:n.*1932dup | |
| XM_011535776.1:c.*1932dup | XP_011534078.1:n.*1932dup | |
| XR_942410.3:n.3071dup | ||
| NM_014028.4:c.*1932dup MANE Select | NP_054747.2:n.*1932dup |