Linked Data
ClinVar Variation Id:
2085710
ClinVar RCV Id:
RCV003005204
dbSNP Id:
rs1156275536
gnomAD v2:
1-949643-AC-A
gnomAD v3:
1-1014263-AC-A
gnomAD v4:
1-1014263-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014265del , CM000663.2:g.1014265del | GRCh38 |
| NC_000001.10:g.949645del , CM000663.1:g.949645del | GRCh37 |
| NC_000001.9:g.939508del | NCBI36 |
| NG_033033.1:g.5799del | |
| NG_033033.2:g.18128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.261del | ENSP00000485643.1:p.Tyr88ThrfsTer5 | |
| ENST00000649529.1:c.285del MANE Select | ENSP00000496832.1:p.Tyr96ThrfsTer5 | |
| ENST00000379389.4:c.285del | ENSP00000368699.4:p.Tyr96ThrfsTer5 | |
| ENST00000624652.1:c.261del | ENSP00000485313.1:p.Tyr88ThrfsTer5 | |
| ENST00000624697.3:c.261del | ENSP00000485643.1:p.Tyr88ThrfsTer5 | |
| NM_005101.3:c.285del | NP_005092.1:p.Tyr96ThrfsTer5 | |
| NM_005101.4:c.285del MANE Select | NP_005092.1:p.Tyr96ThrfsTer5 |