Linked Data
dbSNP Id:
rs749927592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651857_52651858insGCCACTGCCGCCTCCAAA , CM000674.2:g.52651857_52651858insGCCACTGCCGCCTCCAAA | GRCh38 |
| NC_000012.11:g.53045641_53045642insGCCACTGCCGCCTCCAAA , CM000674.1:g.53045641_53045642insGCCACTGCCGCCTCCAAA | GRCh37 |
| NC_000012.10:g.51331908_51331909insGCCACTGCCGCCTCCAAA | NCBI36 |
| NG_008296.1:g.5332_5333insTGGCTTTGGAGGCGGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.299_300insTGGCTTTGGAGGCGGCAG MANE Select | ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer | |
| ENST00000309680.3:c.299_300insTGGCTTTGGAGGCGGCAG | ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer | |
| NM_000423.2:c.299_300insTGGCTTTGGAGGCGGCAG | NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer | |
| NM_000423.3:c.299_300insTGGCTTTGGAGGCGGCAG MANE Select | NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer |