HGVS | Genome Assembly |
---|---|
NC_000003.12:g.52224277dup , CM000665.2:g.52224277dup | GRCh38 |
NC_000003.11:g.52258293dup , CM000665.1:g.52258293dup | GRCh37 |
NC_000003.10:g.52233333dup | NCBI36 |
NG_033933.1:g.6888dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360658.3:c.40dup MANE Select | ENSP00000353874.2:p.Leu14ProfsTer23 | |
ENST00000360658.2:c.40dup | ENSP00000353874.2:p.Leu14ProfsTer23 | |
ENST00000478201.1:c.223-9dup | ||
ENST00000494383.1:c.500dup | ||
NM_017442.3:c.40dup | NP_059138.1:p.Leu14ProfsTer23 | |
NM_017442.4:c.40dup MANE Select | NP_059138.1:p.Leu14ProfsTer23 |