Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169064dup , CM000683.2:g.43169064dup | GRCh38 |
| NG_009823.1:g.5034dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.-36dup MANE Select | ENSP00000291554.2:n.-36dup | |
| NM_000394.3:c.-36dup | NP_000385.1:n.-36dup | |
| XR_001755073.1:n.647+1973dup | ||
| NM_000394.4:c.-36dup MANE Select | NP_000385.1:n.-36dup |