HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226623_5226626del , CM000673.2:g.5226623_5226626del | GRCh38 |
NC_000011.9:g.5247853_5247856del , CM000673.1:g.5247853_5247856del | GRCh37 |
NC_000011.8:g.5204429_5204432del | NCBI36 |
NG_000007.3:g.70994_70997del | |
NG_059281.1:g.5450_5453del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.270_273del | ENSP00000494175.1:p.Glu91CysfsTer? | |
ENST00000335295.4:c.270_273del MANE Select | ENSP00000333994.3:p.Glu91CysfsTer? | |
ENST00000475226.1:n.202_205del | ||
ENST00000485743.1:n.321_324del | ||
ENST00000633227.1:c.*86_*89del | ENSP00000488004.1:n.*86_*89del | |
NM_000518.4:c.270_273del | NP_000509.1:p.Glu91CysfsTer? | |
NM_000518.5:c.270_273del MANE Select | NP_000509.1:p.Glu91CysfsTer? |