Linked Data
ClinVar Variation Id:
1574841
ClinVar RCV Id:
RCV002083114
dbSNP Id:
rs2067379445
gnomAD v3:
20-10656390-TG-T
gnomAD v4:
20-10656390-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656391del , CM000682.2:g.10656391del | GRCh38 |
| NC_000020.10:g.10637039del , CM000682.1:g.10637039del | GRCh37 |
| NC_000020.9:g.10585039del | NCBI36 |
| NG_007496.1:g.22656del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.755+7del MANE Select | ENSP00000254958.4:n.755+7del | |
| ENST00000254958.9:c.755+7del | ENSP00000254958.4:n.755+7del | |
| ENST00000423891.6:n.621+7del | ||
| NM_000214.2:c.755+7del | NP_000205.1:n.755+7del | |
| NM_000214.3:c.755+7del MANE Select | NP_000205.1:n.755+7del |