Linked Data
ClinVar Variation Id:
7905
dbSNP Id:
rs61752410
ExAC:
1:94512504 GC / G
gnomAD v2:
1-94512504-GC-G
gnomAD v4:
1-94046948-GC-G
PubMed:
PMID:17325136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046951del , CM000663.2:g.94046951del | GRCh38 |
| NC_000001.10:g.94512507del , CM000663.1:g.94512507del | GRCh37 |
| NC_000001.9:g.94285095del | NCBI36 |
| NG_009073.1:g.79201del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2888del MANE Select | ENSP00000359245.3:p.Gly963AlafsTer14 | |
| ENST00000649773.1:c.2666del | ENSP00000496882.1:p.Gly889AlafsTer27 | |
| ENST00000370225.3:c.2888del | ENSP00000359245.3:p.Gly963AlafsTer14 | |
| ENST00000536513.5:c.-64-6860del | ENSP00000439707.2:n.-64-6860del | |
| NM_000350.2:c.2888del | NP_000341.2:p.Gly963AlafsTer14 | |
| NM_000350.3:c.2888del MANE Select | NP_000341.2:p.Gly963AlafsTer14 |