HGVS | Genome Assembly |
---|---|
NC_000011.10:g.640166_640167insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG , CM000673.2:g.640166_640167insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG | GRCh38 |
NC_000011.9:g.640166_640167insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG , CM000673.1:g.640166_640167insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG | GRCh37 |
NC_000011.8:g.630166_630167insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG | NCBI36 |
NG_021241.1:g.7862_7863insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000176183.6:c.917_918insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG MANE Select | ENSP00000176183.5:p.Cys306_Gly307insGlyPr... | |
ENST00000176183.5:c.917_918insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG | ENSP00000176183.5:p.Cys306_Gly307insGlyPr... | |
NM_000797.3:c.917_918insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG | NP_000788.2:p.Cys306_Gly307insGlyProAspCy... | |
NM_000797.4:c.917_918insTGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTG MANE Select | NP_000788.2:p.Cys306_Gly307insGlyProAspCy... |