Linked Data
ClinVar Variation Id:
1098869
ClinVar RCV Id:
RCV001421031
dbSNP Id:
rs764581574
gnomAD v4:
18-7015794-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015800del , CM000680.2:g.7015800del | GRCh38 |
| NC_000018.9:g.7015799del , CM000680.1:g.7015799del | GRCh37 |
| NC_000018.8:g.7005799del | NCBI36 |
| NG_034251.1:g.107020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3053del MANE Select | ENSP00000374309.3:p.Pro1018LeufsTer6 | |
| ENST00000389658.3:c.3053del | ENSP00000374309.3:p.Pro1018LeufsTer6 | |
| ENST00000579014.5:n.4068del | ||
| NM_005559.3:c.3053del | NP_005550.2:p.Pro1018LeufsTer6 | |
| XM_011525655.1:c.3053del | XP_011523957.1:p.Pro1018LeufsTer6 | |
| XM_011525656.1:c.1481del | XP_011523958.1:p.Pro494LeufsTer6 | |
| XM_011525657.1:c.3053del | XP_011523959.1:p.Pro1018LeufsTer6 | |
| XM_011525655.2:c.3053del | XP_011523957.1:p.Pro1018LeufsTer6 | |
| XM_011525656.2:c.1481del | XP_011523958.1:p.Pro494LeufsTer6 | |
| NM_005559.4:c.3053del MANE Select | NP_005550.2:p.Pro1018LeufsTer6 |