Linked Data
ClinVar Variation Id:
1483617
ClinVar RCV Id:
RCV002025478
dbSNP Id:
rs759495424
ExAC:
21:46875488 TCTG / T
gnomAD v2:
21-46875488-TCTG-T
gnomAD v4:
21-45455574-TCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45455579_45455581del , CM000683.2:g.45455579_45455581del | GRCh38 |
| NC_000021.8:g.46875493_46875495del , CM000683.1:g.46875493_46875495del | GRCh37 |
| NC_000021.7:g.45699921_45699923del | NCBI36 |
| NG_011903.1:g.55397_55399del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.49_51del | ENSP00000347665.5:p.Cys17del | |
| ENST00000651438.1:c.107-12663_107-12661del MANE Select | ENSP00000498485.1:n.107-12663_107-12661del | |
| ENST00000355480.9:c.49_51del | ENSP00000347665.5:p.Cys17del | |
| ENST00000359759.8:c.49_51del | ENSP00000352798.4:p.Cys17del | |
| ENST00000400337.6:c.107-12663_107-12661del | ENSP00000383191.2:n.107-12663_107-12661del | |
| NM_030582.3:c.49_51del | NP_085059.2:p.Cys17del | |
| NM_130444.2:c.49_51del | NP_569711.2:p.Cys17del | |
| NM_130445.3:c.107-12663_107-12661del | NP_569712.2:n.107-12663_107-12661del | |
| NM_030582.4:c.49_51del | NP_085059.2:p.Cys17del | |
| NM_130444.3:c.49_51del | NP_569711.2:p.Cys17del | |
| NM_130445.4:c.107-12663_107-12661del | NP_569712.2:n.107-12663_107-12661del | |
| NM_001379500.1:c.107-12663_107-12661del MANE Select | NP_001366429.1:n.107-12663_107-12661del |