Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.75210896_75210897dup , CM000680.2:g.75210896_75210897dup | GRCh38 |
| NC_000018.9:g.72922851_72922852dup , CM000680.1:g.72922851_72922852dup | GRCh37 |
| NC_000018.8:g.71051839_71051840dup | NCBI36 |
| NG_032047.1:g.5142_5143dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001308210.2:c.-981_-980dup MANE Select | NP_001295139.1:n.-981_-980dup |
| ENST00000580243.3:c.-981_-980dup MANE Select | ENSP00000464391.1:n.-981_-980dup |
| NM_005786.5:c.-443_-442dup | NP_005777.3:n.-443_-442dup |
| NM_005786.6:c.-443_-442dup | NP_005777.3:n.-443_-442dup |
| ENST00000322038.5:c.-443_-442dup | ENSP00000323584.5:n.-443_-442dup |