Linked Data
ClinVar Variation Id:
1014683
ClinVar RCV Id:
RCV001313448
dbSNP Id:
rs2092906185
gnomAD v3:
17-42536415-TCTC-T
gnomAD v4:
17-42536415-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536417_42536419del , CM000679.2:g.42536417_42536419del | GRCh38 |
| NC_000017.10:g.40688435_40688437del , CM000679.1:g.40688435_40688437del | GRCh37 |
| NC_000017.9:g.37941961_37941963del | NCBI36 |
| NG_011552.1:g.5485_5487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.145_147del MANE Select | ENSP00000225927.1:p.Ser49del | |
| ENST00000225927.6:c.145_147del | ENSP00000225927.1:p.Ser49del | |
| NM_000263.3:c.145_147del | NP_000254.2:p.Ser49del | |
| XM_024450771.1:c.145_147del | XP_024306539.1:p.Ser49del | |
| NM_000263.4:c.145_147del MANE Select | NP_000254.2:p.Ser49del |