Linked Data
ClinVar Variation Id:
844381
ClinVar RCV Id:
RCV001047214
dbSNP Id:
rs1718190006
gnomAD v4:
4-17492229-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17492230dup , CM000666.2:g.17492230dup | GRCh38 |
| NC_000004.11:g.17493853dup , CM000666.1:g.17493853dup | GRCh37 |
| NC_000004.10:g.17102951dup | NCBI36 |
| NG_008763.1:g.25005dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706645.1:n.1592+2dup | ||
| ENST00000281243.10:c.545+2dup MANE Select | ENSP00000281243.5:n.545+2dup | |
| ENST00000281243.9:c.545+2dup | ENSP00000281243.5:n.545+2dup | |
| ENST00000428702.6:c.452+2dup | ENSP00000390944.2:n.452+2dup | |
| ENST00000501943.6:n.282+2dup | ||
| ENST00000505710.1:c.364-1485dup | ||
| ENST00000507439.5:c.437-1485dup | ENSP00000423227.1:n.437-1485dup | |
| ENST00000508623.5:c.437-4994dup | ENSP00000426377.1:n.437-4994dup | |
| ENST00000511609.1:n.277+2dup | ||
| ENST00000513615.5:c.437-1485dup | ENSP00000422759.1:n.437-1485dup | |
| ENST00000514300.1:c.*368-1485dup | ENSP00000426039.1:n.*368-1485dup | |
| NM_000320.2:c.545+2dup | NP_000311.2:n.545+2dup | |
| NM_001306140.1:c.452+2dup | NP_001293069.1:n.452+2dup | |
| XR_241677.1:n.600-1485dup | ||
| NR_156494.1:n.617-1485dup | ||
| NM_000320.3:c.545+2dup MANE Select | NP_000311.2:n.545+2dup | |
| NM_001306140.2:c.452+2dup | NP_001293069.1:n.452+2dup | |
| NR_156494.2:n.473-1485dup |