Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672251_119672266dup , CM000672.2:g.119672251_119672266dup | GRCh38 |
| NC_000010.10:g.121431763_121431778dup , CM000672.1:g.121431763_121431778dup | GRCh37 |
| NC_000010.9:g.121421753_121421768dup | NCBI36 |
| NG_016125.1:g.25882_25897dup , LRG_742:g.25882_25897dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-4_519dup | ||
| ENST00000369085.7:c.508-4_519dup | ||
| ENST00000450186.1:c.334-4_345dup | ||
| NM_004281.3:c.508-4_519dup , LRG_742t1:c.508-4_519dup | ||
| XM_005270287.1:c.508-4_519dup | ||
| XM_005270287.2:c.508-4_519dup | ||
| NM_004281.4:c.508-4_519dup |