Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312645_118312646del , CM000673.2:g.118312645_118312646del | GRCh38 |
| NC_000011.9:g.118183360_118183361del , CM000673.1:g.118183360_118183361del | GRCh37 |
| NC_000011.8:g.117688570_117688571del | NCBI36 |
| NG_007383.1:g.13066_13067del , LRG_38:g.13066_13067del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000733.4:c.131_132del MANE Select | NP_000724.1:p.Thr44SerfsTer12 |
| ENST00000361763.9:c.131_132del MANE Select | ENSP00000354566.4:p.Thr44SerfsTer12 |
| NM_000733.3:c.131_132del , LRG_38t1:c.131_132del | NP_000724.1:p.Thr44SerfsTer12 |
| ENST00000361763.8:c.131_132del | ENSP00000354566.4:p.Thr44SerfsTer12 |
| ENST00000526146.5:n.677_678del | |
| ENST00000528435.5:n.684_685del | |
| ENST00000528600.1:c.113_114del | ENSP00000433975.1:p.Thr38SerfsTer12 |
| ENST00000529713.5:n.237_238del | |
| ENST00000531913.1:n.502_503del |