Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866966dup , CM000686.2:g.2866966dup | GRCh38 |
| NC_000024.9:g.2735007dup , CM000686.1:g.2735007dup | GRCh37 |
| NC_000024.8:g.2795007dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.*72dup MANE Select | ENSP00000250784.7:n.*72dup | |
| ENST00000250784.12:c.*72dup | ENSP00000250784.7:n.*72dup | |
| ENST00000515575.1:n.42+12195dup | ||
| NM_001008.4:c.*72dup MANE Select | NP_000999.1:n.*72dup |