Linked Data
ClinVar Variation Id:
1614873
ClinVar RCV Id:
RCV002078934
dbSNP Id:
rs2140288585
gnomAD v4:
15-71811472-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811473del , CM000677.2:g.71811473del | GRCh38 |
| NC_000015.9:g.72103813del , CM000677.1:g.72103813del | GRCh37 |
| NC_000015.8:g.69890867del | NCBI36 |
| NG_009113.2:g.5919del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.119-10del MANE Select | ENSP00000482504.1:n.119-10del | |
| ENST00000617575.4:c.119-10del | ENSP00000482504.1:n.119-10del | |
| ENST00000621098.1:c.119-10del | ENSP00000479962.1:n.119-10del | |
| ENST00000621736.4:c.-146-10del | ENSP00000479254.1:n.-146-10del | |
| NM_014249.3:c.119-10del | NP_055064.1:n.119-10del | |
| NM_016346.3:c.119-10del | NP_057430.1:n.119-10del | |
| XM_011521146.1:c.-146-10del | XP_011519448.1:n.-146-10del | |
| NM_014249.4:c.119-10del MANE Select | NP_055064.1:n.119-10del | |
| NM_016346.4:c.119-10del | NP_057430.1:n.119-10del |