Linked Data
ClinVar Variation Id:
505015
ClinVar RCV Id:
RCV000608330
dbSNP Id:
rs1553227755
gnomAD v4:
1-161781910-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161781912dup , CM000663.2:g.161781912dup | GRCh38 |
| NC_000001.10:g.161751702dup , CM000663.1:g.161751702dup | GRCh37 |
| NC_000001.9:g.160018326dup | NCBI36 |
| NG_029773.1:g.20669dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367942.4:c.160dup | ||
| ENST00000679833.1:c.160dup | ||
| ENST00000679853.1:c.160dup | ||
| ENST00000679886.1:c.82+15470dup | ENSP00000506559.1:n.82+15470dup | |
| ENST00000680180.1:n.200dup | ||
| ENST00000680462.1:c.160dup | ||
| ENST00000680481.1:c.160dup | ||
| ENST00000680633.1:c.-39dup | ||
| ENST00000680688.1:c.160dup | ||
| ENST00000681001.1:c.*12dup | ||
| ENST00000681036.1:c.-39dup | ||
| ENST00000681169.1:c.160dup | ||
| ENST00000681187.1:n.200dup | ||
| ENST00000681492.1:c.160dup | ||
| ENST00000681541.1:c.-39dup | ||
| ENST00000681557.1:c.156dup | ||
| ENST00000681738.1:c.160dup | ||
| ENST00000681779.1:n.210dup | ||
| ENST00000681801.1:c.160dup | ||
| ENST00000681912.1:c.-30-9496dup | ENSP00000505875.1:n.-30-9496dup | |
| ENST00000367942.3:c.160dup | ||
| NM_007348.3:c.160dup | ||
| XM_006711224.1:c.160dup | ||
| XM_011509308.1:c.160dup | ||
| XM_011509309.1:c.160dup | ||
| XM_011509310.1:c.160dup | ||
| XM_011509310.2:c.160dup | ||
| NM_007348.4:c.160dup |