HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370725_34370726insACAAC , CM000683.2:g.34370725_34370726insACAAC | GRCh38 |
NC_000021.8:g.35743024_35743025insACAAC , CM000683.1:g.35743024_35743025insACAAC | GRCh37 |
NC_000021.7:g.34664894_34664895insACAAC | NCBI36 |
NG_008804.1:g.11702_11703insACAAC , LRG_291:g.11702_11703insACAAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290310.4:c.247_248insACAAC MANE Select | ENSP00000290310.2:p.Pro83HisfsTer9 | |
ENST00000290310.3:c.247_248insACAAC | ENSP00000290310.2:p.Pro83HisfsTer9 | |
NM_172201.1:c.247_248insACAAC , LRG_291t1:c.247_248insACAAC | NP_751951.1:p.Pro83HisfsTer9 | |
XR_937683.1:n.596_597insTTGTG | ||
XR_937684.1:n.596_597insTTGTG | ||
XR_001755012.2:n.717_718insTTGTG | ||
XR_001755013.2:n.596_597insTTGTG | ||
XR_937683.2:n.596_597insTTGTG | ||
NM_172201.2:c.247_248insACAAC MANE Select | NP_751951.1:p.Pro83HisfsTer9 |