Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797509_35797522dup , CM000668.2:g.35797509_35797522dup | GRCh38 |
| NC_000006.11:g.35765286_35765299dup , CM000668.1:g.35765286_35765299dup | GRCh37 |
| NC_000006.10:g.35873264_35873277dup | NCBI36 |
| NG_012184.3:g.5304_5317dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+50_-255+63dup | ENSP00000498322.1:n.-255+50_-255+63dup | |
| XM_011514403.1:c.-135+50_-135+63dup | XP_011512705.1:n.-135+50_-135+63dup |