Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.75211139dup , CM000680.2:g.75211139dup | GRCh38 |
| NC_000018.9:g.72923094dup , CM000680.1:g.72923094dup | GRCh37 |
| NC_000018.8:g.71052082dup | NCBI36 |
| NG_032047.1:g.5385dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001308210.2:c.-738dup MANE Select | NP_001295139.1:n.-738dup |
| ENST00000580243.3:c.-738dup MANE Select | ENSP00000464391.1:n.-738dup |
| NM_005786.5:c.-200dup | NP_005777.3:n.-200dup |
| NM_005786.6:c.-200dup | NP_005777.3:n.-200dup |
| ENST00000322038.5:c.-200dup | ENSP00000323584.5:n.-200dup |