Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832766dup , CM000673.2:g.116832766dup | GRCh38 |
| NC_000011.9:g.116703482dup , CM000673.1:g.116703482dup | GRCh37 |
| NC_000011.8:g.116208692dup | NCBI36 |
| NG_008949.1:g.7859dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.182dup | ||
| ENST00000227667.7:c.182dup | ||
| ENST00000375345.3:c.236dup | ||
| ENST00000630701.1:c.236dup | ||
| NM_000040.1:c.182dup | ||
| NM_000040.2:c.182dup | ||
| NM_000040.3:c.182dup |