Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67583788dup , CM000673.2:g.67583788dup | GRCh38 |
| NC_000011.9:g.67351259dup , CM000673.1:g.67351259dup | GRCh37 |
| NC_000011.8:g.67107835dup | NCBI36 |
| NG_012075.1:g.5194dup , LRG_723:g.5194dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.-56dup | ENSP00000381604.1:n.-56dup | |
| ENST00000398603.5:c.-56dup | ENSP00000381604.1:n.-56dup | |
| ENST00000398606.7:c.-56dup | ENSP00000381607.3:n.-56dup | |
| NM_000852.3:c.-56dup , LRG_723t1:c.-56dup | NP_000843.1:n.-56dup |