Linked Data
ClinVar Variation Id:
596524
ClinVar RCV Id:
RCV000732391
dbSNP Id:
rs1561430786
gnomAD v4:
4-186194501-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194506_186194507del , CM000666.2:g.186194506_186194507del | GRCh38 |
| NC_000004.11:g.187115660_187115661del , CM000666.1:g.187115660_187115661del | GRCh37 |
| NC_000004.10:g.187352654_187352655del | NCBI36 |
| NG_007965.1:g.7987_7988del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.221_222del MANE Select | ENSP00000368079.4:p.Phe74SerfsTer5 | |
| ENST00000378802.4:c.221_222del | ENSP00000368079.4:p.Phe74SerfsTer5 | |
| NM_207352.3:c.221_222del | NP_997235.3:p.Phe74SerfsTer5 | |
| XM_005262935.2:c.221_222del | XP_005262992.1:p.Phe74SerfsTer5 | |
| XM_005262935.4:c.221_222del | XP_005262992.1:p.Phe74SerfsTer5 | |
| XM_017008037.1:c.-90_-89del | XP_016863526.1:n.-90_-89del | |
| NM_207352.4:c.221_222del MANE Select | NP_997235.3:p.Phe74SerfsTer5 |