Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749590_74749603dup , CM000677.2:g.74749590_74749603dup | GRCh38 |
| NC_000015.9:g.75041931_75041944dup , CM000677.1:g.75041931_75041944dup | GRCh37 |
| NC_000015.8:g.72828984_72828997dup | NCBI36 |
| NG_008431.1:g.32049_32062dup | |
| NG_008431.2:g.32049_32062dup | |
| NG_061543.1:g.5746_5759dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.-9-140_-9-127dup MANE Select | ENSP00000342007.4:n.-9-140_-9-127dup | |
| ENST00000343932.4:c.-9-140_-9-127dup | ENSP00000342007.4:n.-9-140_-9-127dup | |
| NM_000761.4:c.-9-140_-9-127dup | NP_000752.2:n.-9-140_-9-127dup | |
| NM_000761.5:c.-9-140_-9-127dup MANE Select | NP_000752.2:n.-9-140_-9-127dup |