Linked Data
gnomAD v4:
17-7455355-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455360del , CM000679.2:g.7455360del | GRCh38 |
| NC_000017.10:g.7358679del , CM000679.1:g.7358679del | GRCh37 |
| NC_000017.9:g.7299403del | NCBI36 |
| NG_008026.1:g.15274del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1121del MANE Select | ENSP00000304290.2:p.Pro374LeufsTer? | |
| ENST00000306071.6:c.1121del | ENSP00000304290.2:p.Pro374LeufsTer? | |
| ENST00000536404.6:c.905del | ENSP00000439209.2:p.Pro302LeufsTer? | |
| ENST00000570557.5:c.784del | ||
| ENST00000573209.1:n.2065del | ||
| ENST00000576360.1:c.758del | ENSP00000459092.1:p.Pro253LeufsTer? | |
| NM_000747.2:c.1121del | NP_000738.2:p.Pro374LeufsTer? | |
| NM_000747.3:c.1121del MANE Select | NP_000738.2:p.Pro374LeufsTer? |