Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117478910dup , CM000669.2:g.117478910dup | GRCh38 |
| NC_000007.13:g.117118964dup , CM000669.1:g.117118964dup | GRCh37 |
| NC_000007.12:g.116906200dup | NCBI36 |
| NG_016465.4:g.18127dup , LRG_663:g.18127dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-525-334dup | ENSP00000417012.1:n.-525-334dup | |
| ENST00000673785.1:c.-406+13079dup | ENSP00000501235.1:n.-406+13079dup | |
| ENST00000546407.1:n.166+3102dup | ||
| XM_011515751.1:c.42-334dup | XP_011514053.1:n.42-334dup | |
| XM_011515752.1:c.42-334dup | XP_011514054.1:n.42-334dup | |
| XM_011515754.1:c.-1187dup | XP_011514056.1:n.-1187dup |