Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65068685_65068686dup , CM000674.2:g.65068685_65068686dup | GRCh38 |
| NC_000012.11:g.65462465_65462466dup , CM000674.1:g.65462465_65462466dup | GRCh37 |
| NC_000012.10:g.63748732_63748733dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007191.5:c.538+113_538+114dup MANE Select | NP_009122.2:n.538+113_538+114dup |
| ENST00000286574.9:c.538+113_538+114dup MANE Select | ENSP00000286574.4:n.538+113_538+114dup |
| NM_007191.4:c.538+113_538+114dup | NP_009122.2:n.538+113_538+114dup |
| ENST00000286574.8:c.538+113_538+114dup | ENSP00000286574.4:n.538+113_538+114dup |
| ENST00000546001.1:c.352+113_352+114dup | ENSP00000442063.1:n.352+113_352+114dup |