Linked Data
gnomAD v4:
17-7454564-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454566del , CM000679.2:g.7454566del | GRCh38 |
| NC_000017.10:g.7357885del , CM000679.1:g.7357885del | GRCh37 |
| NC_000017.9:g.7298609del | NCBI36 |
| NG_008026.1:g.14480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+46del MANE Select | ENSP00000304290.2:n.1044+46del | |
| ENST00000306071.6:c.1044+46del | ENSP00000304290.2:n.1044+46del | |
| ENST00000536404.6:c.828+46del | ENSP00000439209.2:n.828+46del | |
| ENST00000570557.5:c.707+46del | ||
| ENST00000573209.1:n.1988+46del | ||
| ENST00000576360.1:c.681+46del | ENSP00000459092.1:n.681+46del | |
| NM_000747.2:c.1044+46del | NP_000738.2:n.1044+46del | |
| NM_000747.3:c.1044+46del MANE Select | NP_000738.2:n.1044+46del |