Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190419_204190420dup , CM000663.2:g.204190419_204190420dup | GRCh38 |
| NC_000001.10:g.204159547_204159548dup , CM000663.1:g.204159547_204159548dup | GRCh37 |
| NC_000001.9:g.202426170_202426171dup | NCBI36 |
| NG_032151.1:g.11076_11077dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*68_*69dup MANE Select | ENSP00000356162.4:n.*68_*69dup | |
| ENST00000367194.4:c.*68_*69dup | ENSP00000356162.4:n.*68_*69dup | |
| NM_002256.3:c.*68_*69dup | NP_002247.3:n.*68_*69dup | |
| XM_011509525.1:c.*68_*69dup | XP_011507827.1:n.*68_*69dup | |
| NM_002256.4:c.*68_*69dup MANE Select | NP_002247.3:n.*68_*69dup |