Linked Data
ClinVar Variation Id:
1420061
ClinVar RCV Id:
RCV001913988
dbSNP Id:
rs387906492
gnomAD v4:
X-25013659-TGCCGCCGCCGCCGCCGCCGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013671_25013691del , CM000685.2:g.25013671_25013691del | GRCh38 |
| NC_000023.10:g.25031788_25031808del , CM000685.1:g.25031788_25031808del | GRCh37 |
| NC_000023.9:g.24941709_24941729del | NCBI36 |
| NG_008281.1:g.7269_7289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.315_335del MANE Select | ENSP00000368332.4:p.Ala106_Ala112del | |
| ENST00000379044.4:c.315_335del | ENSP00000368332.4:p.Ala106_Ala112del | |
| NM_139058.2:c.315_335del | NP_620689.1:p.Ala106_Ala112del | |
| NM_139058.3:c.315_335del MANE Select | NP_620689.1:p.Ala106_Ala112del |