Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107339_91107346dup , CM000674.2:g.91107339_91107346dup | GRCh38 |
| NC_000012.11:g.91501116_91501123dup , CM000674.1:g.91501116_91501123dup | GRCh37 |
| NC_000012.10:g.90025247_90025254dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+772_862+779dup MANE Select | ENSP00000266718.4:n.862+772_862+779dup | |
| ENST00000266718.4:c.862+772_862+779dup | ENSP00000266718.4:n.862+772_862+779dup | |
| ENST00000546642.1:n.612+772_612+779dup | ||
| ENST00000548071.1:n.255+772_255+779dup | ||
| NM_002345.3:c.862+772_862+779dup | NP_002336.1:n.862+772_862+779dup | |
| NM_002345.4:c.862+772_862+779dup MANE Select | NP_002336.1:n.862+772_862+779dup |