Linked Data
gnomAD v2:
14-24725273-GCAGA-G
MyVariant Identifiers:
chr14:g.24725274_24725277del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256068_24256071del , CM000676.2:g.24256068_24256071del | GRCh38 |
| NC_000014.8:g.24725274_24725277del , CM000676.1:g.24725274_24725277del | GRCh37 |
| NC_000014.7:g.23795114_23795117del | NCBI36 |
| NG_007150.1:g.12096_12099del | |
| NG_007150.2:g.12096_12099del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1409_1412del MANE Select | ENSP00000206765.6:p.Phe470SerfsTer17 | |
| ENST00000206765.10:c.1409_1412del | ENSP00000206765.6:p.Phe470SerfsTer17 | |
| ENST00000544573.5:c.83_86del | ENSP00000439446.1:p.Phe28SerfsTer17 | |
| ENST00000559136.1:c.482_485del | ENSP00000453337.1:p.Phe161SerfsTer17 | |
| NM_000359.2:c.1409_1412del | NP_000350.1:p.Phe470SerfsTer17 | |
| NM_000359.3:c.1409_1412del MANE Select | NP_000350.1:p.Phe470SerfsTer17 |