HGVS | Genome Assembly |
---|---|
NC_000011.10:g.640181_640182insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC , CM000673.2:g.640181_640182insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC | GRCh38 |
NC_000011.9:g.640181_640182insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC , CM000673.1:g.640181_640182insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC | GRCh37 |
NC_000011.8:g.630181_630182insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC | NCBI36 |
NG_021241.1:g.7877_7878insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000176183.6:c.932_933insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC MANE Select | ENSP00000176183.5:p.Ala311_Pro312insProAl... | |
ENST00000176183.5:c.932_933insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC | ENSP00000176183.5:p.Ala311_Pro312insProAl... | |
NM_000797.3:c.932_933insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC | NP_000788.2:p.Ala311_Pro312insProAlaAlaPr... | |
NM_000797.4:c.932_933insGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC MANE Select | NP_000788.2:p.Ala311_Pro312insProAlaAlaPr... |