HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55811851_55811852dup , CM000673.2:g.55811851_55811852dup | GRCh38 |
NC_000011.9:g.55579327_55579328dup , CM000673.1:g.55579327_55579328dup | GRCh37 |
NC_000011.8:g.55335903_55335904dup | NCBI36 |
NG_052620.1:g.5485_5486dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000625203.2:c.385_386dup MANE Select | ENSP00000485319.1:p.Leu131CysfsTer28 | |
ENST00000333973.3:c.385_386dup | ENSP00000335529.2:p.Leu131CysfsTer28 | |
ENST00000623450.1:c.385_386dup | ENSP00000485509.1:p.Leu131CysfsTer28 | |
ENST00000625203.1:c.385_386dup | ENSP00000485319.1:p.Leu131CysfsTer28 | |
NM_001004738.1:c.385_386dup | NP_001004738.1:p.Leu131CysfsTer28 | |
NM_001004738.2:c.385_386dup MANE Select | NP_001004738.1:p.Leu131CysfsTer28 |