Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317795dup , CM000678.2:g.2317795dup | GRCh38 |
| NC_000016.9:g.2367796dup , CM000678.1:g.2367796dup | GRCh37 |
| NC_000016.8:g.2307797dup | NCBI36 |
| NG_011790.1:g.27956dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.874-27dup MANE Select | ENSP00000301732.5:n.874-27dup | |
| ENST00000301732.9:c.874-27dup | ENSP00000301732.5:n.874-27dup | |
| ENST00000382381.7:c.874-27dup | ENSP00000371818.3:n.874-27dup | |
| ENST00000563623.5:n.1437-27dup | ||
| NM_001089.2:c.874-27dup | NP_001080.2:n.874-27dup | |
| NM_001089.3:c.874-27dup MANE Select | NP_001080.2:n.874-27dup |