Linked Data
ClinVar Variation Id:
99170
ClinVar RCV Id:
RCV000085519
dbSNP Id:
rs61750203
gnomAD v4:
1-94046952-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046954del , CM000663.2:g.94046954del | GRCh38 |
| NC_000001.10:g.94512510del , CM000663.1:g.94512510del | GRCh37 |
| NC_000001.9:g.94285098del | NCBI36 |
| NG_009073.1:g.79197del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2884del MANE Select | ENSP00000359245.3:p.Leu962TrpfsTer15 | |
| ENST00000649773.1:c.2662del | ENSP00000496882.1:p.Leu888TrpfsTer28 | |
| ENST00000370225.3:c.2884del | ENSP00000359245.3:p.Leu962TrpfsTer15 | |
| ENST00000536513.5:c.-64-6864del | ENSP00000439707.2:n.-64-6864del | |
| NM_000350.2:c.2884del | NP_000341.2:p.Leu962TrpfsTer15 | |
| NM_000350.3:c.2884del MANE Select | NP_000341.2:p.Leu962TrpfsTer15 |