Linked Data
gnomAD v4:
17-7454482-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454483dup , CM000679.2:g.7454483dup | GRCh38 |
| NC_000017.10:g.7357802dup , CM000679.1:g.7357802dup | GRCh37 |
| NC_000017.9:g.7298526dup | NCBI36 |
| NG_008026.1:g.14397dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1007dup MANE Select | ENSP00000304290.2:p.Pro337ThrfsTer? | |
| ENST00000306071.6:c.1007dup | ENSP00000304290.2:p.Pro337ThrfsTer? | |
| ENST00000536404.6:c.791dup | ENSP00000439209.2:p.Pro265ThrfsTer? | |
| ENST00000570557.5:c.670dup | ||
| ENST00000573209.1:n.1951dup | ||
| ENST00000576360.1:c.644dup | ENSP00000459092.1:p.Pro216ThrfsTer? | |
| NM_000747.2:c.1007dup | NP_000738.2:p.Pro337ThrfsTer? | |
| NM_000747.3:c.1007dup MANE Select | NP_000738.2:p.Pro337ThrfsTer? |