Linked Data
ClinVar Variation Id:
3182
ClinVar RCV Id:
RCV000003332
dbSNP Id:
rs120074169
PubMed:
PMID:16754775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42735117_42735119del , CM000677.2:g.42735117_42735119del | GRCh38 |
| NC_000015.9:g.43027315_43027317del , CM000677.1:g.43027315_43027317del | GRCh37 |
| NC_000015.8:g.40814607_40814609del | NCBI36 |
| NG_012491.1:g.7101_7103del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356231.4:c.1117_1119del MANE Select | ENSP00000348564.3:p.Val373del | |
| ENST00000643434.1:c.*416_*418del | ENSP00000494699.1:n.*416_*418del | |
| ENST00000356231.3:c.1117_1119del | ENSP00000348564.3:p.Val373del | |
| NM_138477.2:c.1117_1119del | NP_612486.2:p.Val373del | |
| XM_005254176.3:c.1120_1122del | XP_005254233.1:p.Val374del | |
| XM_011521270.1:c.1144_1146del | XP_011519572.1:p.Val382del | |
| XM_011521271.1:c.1141_1143del | XP_011519573.1:p.Val381del | |
| XM_011521272.1:c.1144_1146del | XP_011519574.1:p.Val382del | |
| XM_011521273.1:c.1144_1146del | XP_011519575.1:p.Val382del | |
| XM_011521274.1:c.109_111del | XP_011519576.1:p.Val37del | |
| XM_011521275.1:c.361_363del | XP_011519577.1:p.Val121del | |
| XR_931757.1:n.1155_1157del | ||
| NM_138477.4:c.1117_1119del MANE Select | NP_612486.2:p.Val373del | |
| XM_005254176.5:c.1120_1122del | XP_005254233.1:p.Val374del | |
| XM_011521270.2:c.1144_1146del | XP_011519572.1:p.Val382del | |
| XM_011521271.2:c.1141_1143del | XP_011519573.1:p.Val381del | |
| XM_011521274.2:c.109_111del | XP_011519576.1:p.Val37del | |
| XR_001751104.1:n.1174_1176del | ||
| XR_001751105.1:n.1174_1176del | ||
| XR_931757.2:n.1175_1177del |