HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40471298_40471308del , CM000677.2:g.40471298_40471308del | GRCh38 |
NC_000015.9:g.40763497_40763507del , CM000677.1:g.40763497_40763507del | GRCh37 |
NC_000015.8:g.38550789_38550799del | NCBI36 |
NG_017074.1:g.5338_5348del , LRG_600:g.5338_5348del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306243.7:c.85_95del MANE Select | ENSP00000307297.6:p.Arg29GlyfsTer? | |
ENST00000306243.6:c.85_95del | ENSP00000307297.5:p.Arg29GlyfsTer? | |
ENST00000559991.1:c.85_95del | ENSP00000453882.1:p.Arg29GlyfsTer? | |
NM_130468.3:c.85_95del , LRG_600t1:c.85_95del | NP_569735.1:p.Arg29GlyfsTer? | |
NM_130468.4:c.85_95del MANE Select | NP_569735.1:p.Arg29GlyfsTer? |