HGVS | Genome Assembly |
---|---|
NC_000014.9:g.31394124_31394125insTATG , CM000676.2:g.31394124_31394125insTATG | GRCh38 |
NC_000014.8:g.31863330_31863331insTATG , CM000676.1:g.31863330_31863331insTATG | GRCh37 |
NC_000014.7:g.30933081_30933082insTATG | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000543095.7:c.699_700insCATA MANE Select | ENSP00000437968.2:p.Val234HisfsTer16 | |
ENST00000543095.6:c.699_700insCATA | ENSP00000437968.2:p.Val234HisfsTer16 | |
ENST00000549185.5:c.*795_*796insCATA | ENSP00000446654.1:n.*795_*796insCATA | |
NM_015473.3:c.699_700insCATA | NP_056288.2:p.Val234HisfsTer16 | |
NM_015473.4:c.699_700insCATA MANE Select | NP_056288.2:p.Val234HisfsTer16 |