Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96392184_96392185dup , CM000667.2:g.96392184_96392185dup | GRCh38 |
| NC_000005.9:g.95727888_95727889dup , CM000667.1:g.95727888_95727889dup | GRCh37 |
| NC_000005.8:g.95753644_95753645dup | NCBI36 |
| NG_021161.1:g.46106_46107dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.*825_*826dup MANE Select | ENSP00000308024.2:n.*825_*826dup | |
| ENST00000311106.7:c.*825_*826dup | ENSP00000308024.2:n.*825_*826dup | |
| NM_000439.4:c.*825_*826dup | NP_000430.3:n.*825_*826dup | |
| NM_001177875.1:c.*825_*826dup | NP_001171346.1:n.*825_*826dup | |
| NR_130776.1:n.354+12532_354+12533dup | ||
| NM_000439.5:c.*825_*826dup MANE Select | NP_000430.3:n.*825_*826dup | |
| NM_001177875.2:c.*825_*826dup | NP_001171346.1:n.*825_*826dup |