Linked Data
dbSNP Id:
rs765575167
ExAC:
4:68797750 C / CTTTA
MyVariant Identifiers:
chr4:g.68797750_68797751insTTTA (hg19)
chr4:g.67932032_67932033insTTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932032_67932033insTTTA , CM000666.2:g.67932032_67932033insTTTA | GRCh38 |
| NC_000004.11:g.68797750_68797751insTTTA , CM000666.1:g.68797750_68797751insTTTA | GRCh37 |
| NC_000004.10:g.68480345_68480346insTTTA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.280_281insTAAA MANE Select | ENSP00000426911.2:p.Trp94LeufsTer? | |
| ENST00000334830.11:c.289_290insTAAA | ENSP00000334611.7:p.Trp97LeufsTer? | |
| ENST00000396188.3:c.280_281insTAAA | ENSP00000379491.3:p.Trp94LeufsTer? | |
| ENST00000508048.5:c.280_281insTAAA | ENSP00000426911.2:p.Trp94LeufsTer? | |
| ENST00000513536.5:c.220_221insTAAA | ENSP00000427621.1:p.Trp74LeufsTer? | |
| NM_001114387.1:c.280_281insTAAA | NP_001107859.1:p.Trp94LeufsTer? | |
| NM_182606.3:c.289_290insTAAA | NP_872412.3:p.Trp97LeufsTer? | |
| NM_001114387.2:c.280_281insTAAA MANE Select | NP_001107859.1:p.Trp94LeufsTer? | |
| NM_182606.4:c.289_290insTAAA | NP_872412.3:p.Trp97LeufsTer? |