HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423436_23423437insCACAC , CM000676.2:g.23423436_23423437insCACAC | GRCh38 |
NC_000014.8:g.23892645_23892646insCACAC , CM000676.1:g.23892645_23892646insCACAC | GRCh37 |
NC_000014.7:g.22962485_22962486insCACAC | NCBI36 |
NG_007884.1:g.17225_17226insGTGTG , LRG_384:g.17225_17226insGTGTG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+110_3099+111insGTGTG MANE Select | ENSP00000347507.3:n.3099+110_3099+111insGTGTG | |
ENST00000355349.3:c.3099+110_3099+111insGTGTG | ENSP00000347507.3:n.3099+110_3099+111insGTGTG | |
NM_000257.3:c.3099+110_3099+111insGTGTG | NP_000248.2:n.3099+110_3099+111insGTGTG | |
XR_245686.3:n.3205+110_3205+111insGTGTG | ||
XM_017021340.1:c.3099+110_3099+111insGTGTG | XP_016876829.1:n.3099+110_3099+111insGTGTG | |
NM_000257.4:c.3099+110_3099+111insGTGTG MANE Select | NP_000248.2:n.3099+110_3099+111insGTGTG |