Linked Data
gnomAD v4:
11-118312730-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312735dup , CM000673.2:g.118312735dup | GRCh38 |
| NC_000011.9:g.118183450dup , CM000673.1:g.118183450dup | GRCh37 |
| NC_000011.8:g.117688660dup | NCBI36 |
| NG_007383.1:g.13156dup , LRG_38:g.13156dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.221dup MANE Select | ENSP00000354566.4:p.Asn74LysfsTer5 | |
| ENST00000361763.8:c.221dup | ENSP00000354566.4:p.Asn74LysfsTer5 | |
| ENST00000526146.5:n.767dup | ||
| ENST00000528435.5:n.774dup | ||
| ENST00000528600.1:c.203dup | ENSP00000433975.1:p.Asn68LysfsTer5 | |
| ENST00000529713.5:n.327dup | ||
| ENST00000531913.1:n.592dup | ||
| NM_000733.3:c.221dup , LRG_38t1:c.221dup | NP_000724.1:p.Asn74LysfsTer5 | |
| NM_000733.4:c.221dup MANE Select | NP_000724.1:p.Asn74LysfsTer5 |