Linked Data
ClinVar Variation Id:
664642
ClinVar RCV Id:
RCV000822776
dbSNP Id:
rs1479881544
gnomAD v2:
14-24725276-GA-G
gnomAD v4:
14-24256070-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256072del , CM000676.2:g.24256072del | GRCh38 |
| NC_000014.8:g.24725278del , CM000676.1:g.24725278del | GRCh37 |
| NC_000014.7:g.23795118del | NCBI36 |
| NG_007150.1:g.12096del | |
| NG_007150.2:g.12096del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1409del MANE Select | ENSP00000206765.6:p.Phe470SerfsTer18 | |
| ENST00000206765.10:c.1409del | ENSP00000206765.6:p.Phe470SerfsTer18 | |
| ENST00000544573.5:c.83del | ENSP00000439446.1:p.Phe28SerfsTer18 | |
| ENST00000559136.1:c.482del | ENSP00000453337.1:p.Phe161SerfsTer18 | |
| NM_000359.2:c.1409del | NP_000350.1:p.Phe470SerfsTer18 | |
| NM_000359.3:c.1409del MANE Select | NP_000350.1:p.Phe470SerfsTer18 |