Linked Data
ClinVar Variation Id:
2918260
ClinVar RCV Id:
RCV003737996
dbSNP Id:
rs1440628831
gnomAD v2:
15-72104088-TCTC-T
gnomAD v3:
15-71811748-TCTC-T
gnomAD v4:
15-71811748-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811752_71811754del , CM000677.2:g.71811752_71811754del | GRCh38 |
| NC_000015.9:g.72104092_72104094del , CM000677.1:g.72104092_72104094del | GRCh37 |
| NC_000015.8:g.69891146_69891148del | NCBI36 |
| NG_009113.2:g.6198_6200del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.246-14_246-12del MANE Select | ENSP00000482504.1:n.246-14_246-12del | |
| ENST00000617575.4:c.246-14_246-12del | ENSP00000482504.1:n.246-14_246-12del | |
| ENST00000621098.1:c.246-14_246-12del | ENSP00000479962.1:n.246-14_246-12del | |
| ENST00000621736.4:c.-19-14_-19-12del | ENSP00000479254.1:n.-19-14_-19-12del | |
| NM_014249.3:c.246-14_246-12del | NP_055064.1:n.246-14_246-12del | |
| NM_016346.3:c.246-14_246-12del | NP_057430.1:n.246-14_246-12del | |
| XM_011521146.1:c.-19-14_-19-12del | XP_011519448.1:n.-19-14_-19-12del | |
| NM_014249.4:c.246-14_246-12del MANE Select | NP_055064.1:n.246-14_246-12del | |
| NM_016346.4:c.246-14_246-12del | NP_057430.1:n.246-14_246-12del |