Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117209505dup , CM000672.2:g.117209505dup | GRCh38 |
| NC_000010.10:g.118969016dup , CM000672.1:g.118969016dup | GRCh37 |
| NC_000010.9:g.118959006dup | NCBI36 |
| NG_028085.1:g.17017dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181840.1:c.361dup MANE Select | NP_862823.1:p.Tyr121LeufsTer? |
| ENST00000334549.1:c.361dup MANE Select | ENSP00000334650.1:p.Tyr121LeufsTer? |