Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956822dup , CM000670.2:g.24956822dup | GRCh38 |
| NC_000008.10:g.24814336dup , CM000670.1:g.24814336dup | GRCh37 |
| NC_000008.9:g.24870253dup | NCBI36 |
| NG_008492.1:g.4796dup , LRG_259:g.4796dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-307dup | ENSP00000482169.1:n.-307dup | |
| NM_006158.4:c.-307dup , LRG_259t1:c.-307dup | NP_006149.2:n.-307dup |