Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67435564dup , CM000678.2:g.67435564dup | GRCh38 |
| NC_000016.9:g.67469467dup , CM000678.1:g.67469467dup | GRCh37 |
| NC_000016.8:g.66026968dup | NCBI36 |
| NG_016549.1:g.9432dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.266-64dup MANE Select | ENSP00000316786.5:n.266-64dup | |
| ENST00000326152.5:c.266-64dup | ENSP00000316786.5:n.266-64dup | |
| ENST00000566606.1:c.180dup | ENSP00000473429.1:n.180dup | |
| ENST00000567684.2:n.129-64dup | ||
| NM_000196.3:c.266-64dup | NP_000187.3:n.266-64dup | |
| NM_000196.4:c.266-64dup MANE Select | NP_000187.3:n.266-64dup |