HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326435_2326439del , CM000678.2:g.2326435_2326439del | GRCh38 |
NC_000016.9:g.2376436_2376440del , CM000678.1:g.2376436_2376440del | GRCh37 |
NC_000016.8:g.2316437_2316441del | NCBI36 |
NG_011790.1:g.19310_19314del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.30_34del MANE Select | ENSP00000301732.5:p.Leu11GlufsTer? | |
ENST00000301732.9:c.30_34del | ENSP00000301732.5:p.Leu11GlufsTer? | |
ENST00000382381.7:c.30_34del | ENSP00000371818.3:p.Leu11GlufsTer? | |
ENST00000563623.5:n.593_597del | ||
ENST00000567910.1:c.30_34del | ENSP00000454397.1:p.Leu11GlufsTer? | |
NM_001089.2:c.30_34del | NP_001080.2:p.Leu11GlufsTer? | |
NM_001089.3:c.30_34del MANE Select | NP_001080.2:p.Leu11GlufsTer? |