Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285483_40285490dup , CM000681.2:g.40285483_40285490dup | GRCh38 |
| NC_000019.9:g.40791390_40791397dup , CM000681.1:g.40791390_40791397dup | GRCh37 |
| NC_000019.8:g.45483230_45483237dup | NCBI36 |
| NG_012038.2:g.4874_4881dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-122_-115dup | ENSP00000462022.1:n.-122_-115dup | |
| XM_011526620.1:c.-122_-115dup | XP_011524922.1:n.-122_-115dup |