Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.75211010_75211011dup , CM000680.2:g.75211010_75211011dup | GRCh38 |
| NC_000018.9:g.72922965_72922966dup , CM000680.1:g.72922965_72922966dup | GRCh37 |
| NC_000018.8:g.71051953_71051954dup | NCBI36 |
| NG_032047.1:g.5256_5257dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001308210.2:c.-867_-866dup MANE Select | NP_001295139.1:n.-867_-866dup |
| ENST00000580243.3:c.-867_-866dup MANE Select | ENSP00000464391.1:n.-867_-866dup |
| NM_005786.5:c.-329_-328dup | NP_005777.3:n.-329_-328dup |
| NM_005786.6:c.-329_-328dup | NP_005777.3:n.-329_-328dup |
| ENST00000322038.5:c.-329_-328dup | ENSP00000323584.5:n.-329_-328dup |