Linked Data
ClinVar Variation Id:
279890
dbSNP Id:
rs776969714
ExAC:
4:25146751 G / GC
gnomAD v2:
4-25146751-G-GC
gnomAD v3:
4-25145129-G-GC
gnomAD v4:
4-25145129-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25145134dup , CM000666.2:g.25145134dup | GRCh38 |
| NC_000004.11:g.25146756dup , CM000666.1:g.25146756dup | GRCh37 |
| NC_000004.10:g.24755854dup | NCBI36 |
| NG_028222.1:g.20453dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.808dup | ||
| ENST00000680581.1:c.808dup | ||
| ENST00000680824.1:n.2024dup | ||
| ENST00000681071.1:n.1100dup | ||
| ENST00000681341.1:n.1949dup | ||
| ENST00000681948.1:c.1063dup | ||
| ENST00000358971.7:c.*606dup | ||
| ENST00000382103.6:c.808dup | ||
| ENST00000503150.1:c.217-265dup | ||
| ENST00000505513.1:n.235-265dup | ||
| ENST00000514585.5:c.*509dup | ||
| NM_016955.3:c.808dup | ||
| XM_005248168.2:c.571dup | ||
| XM_006713965.2:c.628dup | ||
| XM_011513846.1:c.805dup | ||
| XM_011513847.1:c.775dup | ||
| XM_011513848.1:c.628dup | ||
| XM_011513846.2:c.805dup | ||
| XM_011513847.2:c.775dup | ||
| XM_017008277.1:c.1063dup | ||
| XM_017008278.1:c.385dup | ||
| NM_016955.4:c.808dup |