Linked Data
ClinVar Variation Id:
157520
ClinVar RCV Id:
RCV000191953
dbSNP Id:
rs797044483
gnomAD v4:
12-12718172-GA-G
PubMed:
PMID:26603463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718173del , CM000674.2:g.12718173del | GRCh38 |
| NC_000012.11:g.12871107del , CM000674.1:g.12871107del | GRCh37 |
| NC_000012.10:g.12762374del | NCBI36 |
| NG_016341.1:g.5806del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.334del | ENSP00000507272.1:p.Ser112AlafsTer7 | |
| ENST00000682620.1:n.1631-652del | ||
| ENST00000684771.1:n.585-652del | ||
| ENST00000228872.9:c.334del MANE Select | ENSP00000228872.4:p.Ser112AlafsTer7 | |
| ENST00000228872.8:c.334del | ENSP00000228872.4:p.Ser112AlafsTer7 | |
| ENST00000396340.1:c.334del | ENSP00000379629.1:p.Ser112AlafsTer7 | |
| ENST00000442489.1:c.193+120del | ENSP00000407597.1:n.193+120del | |
| ENST00000477087.1:n.155-652del | ||
| NM_004064.4:c.334del | NP_004055.1:p.Ser112AlafsTer7 | |
| NM_004064.5:c.334del MANE Select | NP_004055.1:p.Ser112AlafsTer7 |