Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23192079dup , CM000678.2:g.23192079dup | GRCh38 |
| NC_000016.9:g.23203400dup , CM000678.1:g.23203400dup | GRCh37 |
| NC_000016.8:g.23110901dup | NCBI36 |
| NG_011909.1:g.14361dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039.4:c.619-273dup MANE Select | NP_001030.2:n.619-273dup |
| ENST00000300061.3:c.619-273dup MANE Select | ENSP00000300061.2:n.619-273dup |
| NM_001039.3:c.619-273dup | NP_001030.2:n.619-273dup |
| ENST00000300061.2:c.619-273dup | ENSP00000300061.2:n.619-273dup |