HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767714_28767715del , CM000676.2:g.28767714_28767715del | GRCh38 |
NC_000014.8:g.29236920_29236921del , CM000676.1:g.29236920_29236921del | GRCh37 |
NC_000014.7:g.28306671_28306672del | NCBI36 |
NG_009367.1:g.5634_5635del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.435_436del | ENSP00000516406.1:p.Lys147GlyfsTer? | |
ENST00000313071.7:c.435_436del MANE Select | ENSP00000339004.3:p.Lys147GlyfsTer? | |
ENST00000313071.6:c.435_436del | ENSP00000339004.3:p.Lys147GlyfsTer? | |
NM_005249.4:c.435_436del | NP_005240.3:p.Lys147GlyfsTer? | |
NM_005249.5:c.435_436del MANE Select | NP_005240.3:p.Lys147GlyfsTer? |