HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24145676_24145682delinsCCAGTTT , CM000668.2:g.24145676_24145682delinsCCAGTTT | GRCh38 |
NC_000006.11:g.24145904_24145910delinsCCAGTTT , CM000668.1:g.24145904_24145910delinsCCAGTTT | GRCh37 |
NC_000006.10:g.24253883_24253889delinsCCAGTTT | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378491.9:c.318_324delinsCCAGTTT MANE Select | ENSP00000367752.4:p.Val106= | |
ENST00000378477.2:c.318_324delinsCCAGTTT | ENSP00000367738.2:p.Val106= | |
ENST00000378478.5:c.318_324delinsCCAGTTT | ENSP00000367739.2:p.Val106= | |
ENST00000378491.8:c.318_324delinsCCAGTTT | ENSP00000367752.4:p.Val106= | |
ENST00000468195.2:n.257-9095_257-9089delinsCCAGTTT | ||
NM_080723.4:c.318_324delinsCCAGTTT | NP_542454.3:p.Val106= | |
NM_080723.5:c.318_324delinsCCAGTTT MANE Select | NP_542454.3:p.Val106= |