Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18398607_18400641dup , CM000670.2:g.18398607_18400641dup | GRCh38 |
| NC_000008.10:g.18256117_18258151dup , CM000670.1:g.18256117_18258151dup | GRCh37 |
| NC_000008.9:g.18300397_18302431dup | NCBI36 |
| NG_012246.1:g.12363_14397dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.2:c.-6-1391_638dup | |
| NM_000015.3:c.-6-1391_638dup | |
| ENST00000286479.3:c.-6-1391_638dup | |
| ENST00000286479.4:c.-6-1391_638dup | |
| ENST00000520116.1:c.-57-1730_248dup | |
| XM_011544358.1:c.-6-1391_638dup | |
| XM_017012938.1:c.-6-1391_638dup |