Linked Data
ClinVar Variation Id:
1602
ClinVar RCV Id:
RCV000001669
dbSNP Id:
rs730880260
PubMed:
PMID:20691405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161074707del , CM000663.2:g.161074707del | GRCh38 |
| NC_000001.10:g.161044497del , CM000663.1:g.161044497del | GRCh37 |
| NC_000001.9:g.159311121del | NCBI36 |
| NG_028109.1:g.19891del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368012.4:c.906del MANE Select | ENSP00000356991.3:p.Pro304HisfsTer2 | |
| ENST00000368012.3:c.906del | ENSP00000356991.3:p.Pro304HisfsTer2 | |
| NM_030916.2:c.906del | NP_112178.2:p.Pro304HisfsTer2 | |
| XM_005245508.2:c.906del | XP_005245565.1:p.Pro304HisfsTer2 | |
| XM_011510021.1:c.906del | XP_011508323.1:p.Pro304HisfsTer2 | |
| XM_011510022.1:c.906del | XP_011508324.1:p.Pro304HisfsTer2 | |
| XM_011510023.1:c.906del | XP_011508325.1:p.Pro304HisfsTer2 | |
| XM_005245508.3:c.906del | XP_005245565.1:p.Pro304HisfsTer2 | |
| XM_011510021.2:c.906del | XP_011508323.1:p.Pro304HisfsTer2 | |
| XM_011510022.2:c.906del | XP_011508324.1:p.Pro304HisfsTer2 | |
| NM_030916.3:c.906del MANE Select | NP_112178.2:p.Pro304HisfsTer2 |