Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420238dup , CM000676.2:g.23420238dup | GRCh38 |
| NC_000014.8:g.23889447dup , CM000676.1:g.23889447dup | GRCh37 |
| NC_000014.7:g.22959287dup | NCBI36 |
| NG_007884.1:g.20425dup , LRG_384:g.20425dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.3337-3dup MANE Select | NP_000248.2:n.3337-3dup |
| ENST00000355349.4:c.3337-3dup MANE Select | ENSP00000347507.3:n.3337-3dup |
| NM_000257.3:c.3337-3dup | NP_000248.2:n.3337-3dup |
| ENST00000355349.3:c.3337-3dup | ENSP00000347507.3:n.3337-3dup |
| XM_017021340.1:c.3337-3dup | XP_016876829.1:n.3337-3dup |
| XR_245686.3:n.3445-3dup |