Linked Data
ClinVar Variation Id:
639570
ClinVar RCV Id:
RCV000792392
dbSNP Id:
rs1192699698
gnomAD v2:
15-23086394-CGCAGCT-C
gnomAD v3:
15-22786663-ACTGCAG-A
gnomAD v4:
15-22786663-ACTGCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22786668_22786673del , CM000677.2:g.22786668_22786673del | GRCh38 |
| NC_000015.9:g.23086399_23086404del , CM000677.1:g.23086399_23086404del | GRCh37 |
| NC_000015.8:g.20637840_20637845del | NCBI36 |
| NG_009056.1:g.5444_5449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.12_17del MANE Select | ENSP00000337452.4:p.Ala5_Ala6del | |
| ENST00000337435.8:c.12_17del | ENSP00000337452.4:p.Ala5_Ala6del | |
| ENST00000437912.6:c.-48+12355_-48+12360del | ENSP00000393962.2:n.-48+12355_-48+12360del | |
| ENST00000560069.5:n.31+420_31+425del | ||
| ENST00000561183.5:c.-48+420_-48+425del | ENSP00000453722.1:n.-48+420_-48+425del | |
| NM_001142275.1:c.-48+420_-48+425del | NP_001135747.1:n.-48+420_-48+425del | |
| NM_144599.4:c.12_17del | NP_653200.2:p.Ala5_Ala6del | |
| NM_144599.5:c.12_17del MANE Select | NP_653200.2:p.Ala5_Ala6del |