Linked Data
ClinVar Variation Id:
421029
ClinVar RCV Id:
RCV000484412
dbSNP Id:
rs1064794861
gnomAD v4:
17-16325860-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16325863del , CM000679.2:g.16325863del | GRCh38 |
| NC_000017.10:g.16229177del , CM000679.1:g.16229177del | GRCh37 |
| NC_000017.9:g.16169902del | NCBI36 |
| NG_032651.1:g.113669del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225609.10:c.724del MANE Select | ENSP00000225609.5:p.Arg242GlyfsTer3 | |
| ENST00000225609.9:c.724del | ENSP00000225609.5:p.Arg242GlyfsTer3 | |
| ENST00000395844.8:c.692del | ENSP00000379185.3:p.Pro231ArgfsTer12 | |
| ENST00000488375.2:n.582del | ||
| ENST00000581006.5:c.427-22829del | ENSP00000462432.1:n.427-22829del | |
| ENST00000596678.2:c.266del | ENSP00000470064.2:p.Pro89ArgfsTer12 | |
| ENST00000613719.1:n.987+8175del | ||
| NM_004278.3:c.724del | NP_004269.1:p.Arg242GlyfsTer3 | |
| XR_243571.2:n.1722del | ||
| XM_017025349.1:c.*888del | XP_016880838.1:n.*888del | |
| XM_017025350.1:c.*888del | XP_016880839.1:n.*888del | |
| XM_017025352.1:c.724del | XP_016880841.1:p.Arg242GlyfsTer3 | |
| XM_017025353.1:c.724del | XP_016880842.1:p.Arg242GlyfsTer3 | |
| XM_017025354.1:c.692del | XP_016880843.1:p.Pro231ArgfsTer12 | |
| XM_017025355.1:c.692del | XP_016880844.1:p.Pro231ArgfsTer12 | |
| XM_017025356.1:c.*1201del | XP_016880845.1:n.*1201del | |
| NM_004278.4:c.724del MANE Select | NP_004269.1:p.Arg242GlyfsTer3 |