Linked Data
dbSNP Id:
rs2108749346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529086_129529087insACTTGGAGGTGAAATCGCCCTGTGGTC , CM000665.2:g.129529086_129529087insACTTGGAGGTGAAATCGCCCTGTGGTC | GRCh38 |
| NC_000003.11:g.129247929_129247930insACTTGGAGGTGAAATCGCCCTGTGGTC , CM000665.1:g.129247929_129247930insACTTGGAGGTGAAATCGCCCTGTGGTC | GRCh37 |
| NC_000003.10:g.130730619_130730620insACTTGGAGGTGAAATCGCCCTGTGGTC | NCBI36 |
| NG_009115.1:g.5448_5449insACTTGGAGGTGAAATCGCCCTGTGGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.353_354insACTTGGAGGTGAAATCGCCCTGTGGTC MANE Select | ENSP00000296271.3:p.Thr118_Leu119insLeuGlyGlyGluIleAlaLeuTrpS... | |
| ENST00000296271.3:c.353_354insACTTGGAGGTGAAATCGCCCTGTGGTC | ENSP00000296271.3:p.Thr118_Leu119insLeuGlyGlyGluIleAlaLeuTrpS... | |
| NM_000539.3:c.353_354insACTTGGAGGTGAAATCGCCCTGTGGTC MANE Select | NP_000530.1:p.Thr118_Leu119insLeuGlyGlyGluIleAlaLeuTrpSer |