HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370641_34370643dup , CM000683.2:g.34370641_34370643dup | GRCh38 |
NC_000021.8:g.35742940_35742942dup , CM000683.1:g.35742940_35742942dup | GRCh37 |
NC_000021.7:g.34664810_34664812dup | NCBI36 |
NG_008804.1:g.11618_11620dup , LRG_291:g.11618_11620dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290310.4:c.163_165dup MANE Select | ENSP00000290310.2:p.Val55_Met56insVal | |
ENST00000290310.3:c.163_165dup | ENSP00000290310.2:p.Val55_Met56insVal | |
NM_172201.1:c.163_165dup , LRG_291t1:c.163_165dup | NP_751951.1:p.Val55_Met56insVal | |
XR_937683.1:n.680_682dup | ||
XR_937684.1:n.680_682dup | ||
XR_001755012.2:n.801_803dup | ||
XR_001755013.2:n.680_682dup | ||
XR_937683.2:n.680_682dup | ||
NM_172201.2:c.163_165dup MANE Select | NP_751951.1:p.Val55_Met56insVal |