Linked Data
ClinVar Variation Id:
2050777
ClinVar RCV Id:
RCV002922077
dbSNP Id:
rs2048713660
gnomAD v4:
X-25013689-CGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013692_25013694del , CM000685.2:g.25013692_25013694del | GRCh38 |
| NC_000023.10:g.25031809_25031811del , CM000685.1:g.25031809_25031811del | GRCh37 |
| NC_000023.9:g.24941730_24941732del | NCBI36 |
| NG_008281.1:g.7257_7259del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.303_305del MANE Select | ENSP00000368332.4:p.Ala102del | |
| ENST00000379044.4:c.303_305del | ENSP00000368332.4:p.Ala102del | |
| NM_139058.2:c.303_305del | NP_620689.1:p.Ala102del | |
| NM_139058.3:c.303_305del MANE Select | NP_620689.1:p.Ala102del |