Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747224dup , CM000673.2:g.64747224dup | GRCh38 |
| NC_000011.9:g.64514696dup , CM000673.1:g.64514696dup | GRCh37 |
| NC_000011.8:g.64271272dup | NCBI36 |
| NG_007574.1:g.3234dup , LRG_100:g.3234dup | |
| NG_013018.1:g.18493dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2312+1dup | ||
| ENST00000164139.3:c.2312+1dup | ||
| ENST00000377432.7:c.2048+1dup | ||
| ENST00000483742.1:n.1665+1dup | ||
| NM_001164716.1:c.2048+1dup | ||
| NM_005609.2:c.2312+1dup | ||
| NM_005609.3:c.2312+1dup | ||
| NM_005609.4:c.2312+1dup |