HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763706_57763712dup , CM000674.2:g.57763706_57763712dup | GRCh38 |
NC_000012.11:g.58157489_58157495dup , CM000674.1:g.58157489_58157495dup | GRCh37 |
NC_000012.10:g.56443756_56443762dup | NCBI36 |
NG_007076.1:g.8489_8495dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1400_1406dup | ENSP00000518840.1:p.Phe470ProfsTer24 | |
ENST00000713545.1:c.*324_*330dup | ENSP00000518841.1:n.*324_*330dup | |
ENST00000228606.9:c.1319_1325dup MANE Select | ENSP00000228606.4:p.Phe443ProfsTer24 | |
ENST00000228606.8:c.1319_1325dup | ENSP00000228606.4:p.Phe443ProfsTer24 | |
ENST00000547344.5:n.1458_1464dup | ||
NM_000785.3:c.1319_1325dup | NP_000776.1:p.Phe443ProfsTer24 | |
NM_000785.4:c.1319_1325dup MANE Select | NP_000776.1:p.Phe443ProfsTer24 |