HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319488_6319491dup , CM000673.2:g.6319488_6319491dup | GRCh38 |
NC_000011.9:g.6340718_6340721dup , CM000673.1:g.6340718_6340721dup | GRCh37 |
NC_000011.8:g.6297294_6297297dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.458_461dup MANE Select | ENSP00000307292.3:p.Pro155GlyfsTer? | |
ENST00000303927.3:c.458_461dup | ENSP00000307292.3:p.Pro155GlyfsTer? | |
ENST00000524852.1:n.244_247dup | ||
ENST00000530979.1:c.554_557dup | ENSP00000432047.1:p.Pro187GlyfsTer? | |
ENST00000532354.1:n.480_483dup | ||
NM_145040.2:c.458_461dup | NP_659477.2:p.Pro155GlyfsTer? | |
XR_930997.1:n.720+1268_720+1271dup | ||
XR_001748106.1:n.99_102dup | ||
XR_242848.4:n.348_351dup | ||
NM_145040.3:c.458_461dup MANE Select | NP_659477.2:p.Pro155GlyfsTer? |