Linked Data
dbSNP Id:
rs2102371747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586335_182586336insGATGAGATGGGGGCAGA , CM000663.2:g.182586335_182586336insGATGAGATGGGGGCAGA | GRCh38 |
| NC_000001.10:g.182555470_182555471insGATGAGATGGGGGCAGA , CM000663.1:g.182555470_182555471insGATGAGATGGGGGCAGA | GRCh37 |
| NC_000001.9:g.180822093_180822094insGATGAGATGGGGGCAGA | NCBI36 |
| NG_009024.2:g.5638_5639insTCTGCCCCCATCTCATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.471_472insTCTGCCCCCATCTCATC MANE Select | ENSP00000356530.3:p.Lys158SerfsTer13 | |
| ENST00000539397.1:c.471_472insTCTGCCCCCATCTCATC | ENSP00000440844.1:p.Lys158SerfsTer13 | |
| NM_021133.3:c.471_472insTCTGCCCCCATCTCATC | NP_066956.1:p.Lys158SerfsTer13 | |
| XM_005245411.2:c.471_472insTCTGCCCCCATCTCATC | XP_005245468.1:p.Lys158SerfsTer13 | |
| XR_001737359.1:n.754_755insTCTGCCCCCATCTCATC | ||
| XR_001737360.1:n.754_755insTCTGCCCCCATCTCATC | ||
| NM_021133.4:c.471_472insTCTGCCCCCATCTCATC MANE Select | NP_066956.1:p.Lys158SerfsTer13 |