Linked Data
gnomAD v4:
11-89178655-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178656dup , CM000673.2:g.89178656dup | GRCh38 |
| NC_000011.9:g.88911824dup , CM000673.1:g.88911824dup | GRCh37 |
| NC_000011.8:g.88551472dup | NCBI36 |
| NG_008748.1:g.5785dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.703dup MANE Select | ENSP00000263321.4:p.Tyr235LeufsTer11 | |
| ENST00000263321.5:c.703dup | ENSP00000263321.4:p.Tyr235LeufsTer11 | |
| ENST00000526139.1:n.764dup | ||
| NM_000372.4:c.703dup | NP_000363.1:p.Tyr235LeufsTer11 | |
| XM_011542970.1:c.703dup | XP_011541272.1:p.Tyr235LeufsTer11 | |
| XM_011542970.2:c.703dup | XP_011541272.1:p.Tyr235LeufsTer11 | |
| XR_001748321.1:n.2718-65123dup | ||
| XR_001748322.1:n.2733-65123dup | ||
| NM_000372.5:c.703dup MANE Select | NP_000363.1:p.Tyr235LeufsTer11 |