Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646586_34646589dup , CM000671.2:g.34646586_34646589dup | GRCh38 |
| NC_000009.11:g.34646583_34646586dup , CM000671.1:g.34646583_34646586dup | GRCh37 |
| NC_000009.10:g.34636583_34636586dup | NCBI36 |
| NG_009029.1:g.4949_4952dup | |
| NG_009029.2:g.4998_5001dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605275.1:n.209-91_209-88dup |