HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226975_5226976delinsCA , CM000673.2:g.5226975_5226976delinsCA | GRCh38 |
NC_000011.9:g.5248205_5248206delinsCA , CM000673.1:g.5248205_5248206delinsCA | GRCh37 |
NC_000011.8:g.5204781_5204782delinsCA | NCBI36 |
NG_000007.3:g.70640_70641delinsTG | |
NG_059281.1:g.5096_5097delinsTG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.46_47delinsTG | ENSP00000494175.1:p.Trp16= | |
ENST00000335295.4:c.46_47delinsTG MANE Select | ENSP00000333994.3:p.Trp16= | |
ENST00000380315.2:c.46_47delinsTG | ENSP00000369671.2:p.Trp16= | |
ENST00000485743.1:n.97_98delinsTG | ||
ENST00000633227.1:c.46_47delinsTG | ENSP00000488004.1:p.Trp16= | |
NM_000518.4:c.46_47delinsTG | NP_000509.1:p.Trp16= | |
NM_000518.5:c.46_47delinsTG MANE Select | NP_000509.1:p.Trp16= |