Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479456dup , CM000669.2:g.117479456dup | GRCh38 |
| NC_000007.13:g.117119510dup , CM000669.1:g.117119510dup | GRCh37 |
| NC_000007.12:g.116906746dup | NCBI36 |
| NG_016465.4:g.18673dup , LRG_663:g.18673dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-423-6dup | ENSP00000417012.1:n.-423-6dup | |
| ENST00000673785.1:c.-406+13625dup | ENSP00000501235.1:n.-406+13625dup | |
| ENST00000446805.1:c.-423-6dup | ENSP00000417012.1:n.-423-6dup | |
| ENST00000546407.1:n.166+3648dup | ||
| XM_011515751.1:c.143+111dup | XP_011514053.1:n.143+111dup | |
| XM_011515752.1:c.143+111dup | XP_011514054.1:n.143+111dup | |
| XM_011515753.1:c.-423-6dup | XP_011514055.1:n.-423-6dup | |
| XM_011515754.1:c.-751-6dup | XP_011514056.1:n.-751-6dup |