Linked Data
ClinVar Variation Id:
2201958
ClinVar RCV Id:
RCV002629855
dbSNP Id:
rs1190722139
gnomAD v3:
X-25013686-CGCCGCT-C
gnomAD v4:
X-25013686-CGCCGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013692_25013697del , CM000685.2:g.25013692_25013697del | GRCh38 |
| NC_000023.10:g.25031809_25031814del , CM000685.1:g.25031809_25031814del | GRCh37 |
| NC_000023.9:g.24941730_24941735del | NCBI36 |
| NG_008281.1:g.7257_7262del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.303_308del MANE Select | ENSP00000368332.4:p.Ala102_Ala103del | |
| ENST00000379044.4:c.303_308del | ENSP00000368332.4:p.Ala102_Ala103del | |
| NM_139058.2:c.303_308del | NP_620689.1:p.Ala102_Ala103del | |
| NM_139058.3:c.303_308del MANE Select | NP_620689.1:p.Ala102_Ala103del |