HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115492del , CM000681.2:g.10115492del | GRCh38 |
NC_000019.9:g.10226168del , CM000681.1:g.10226168del | GRCh37 |
NC_000019.8:g.10087168del | NCBI36 |
NG_047007.1:g.8972del | |
NG_051197.1:g.9433del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253108.9:c.934del MANE Select | ENSP00000253108.3:p.Val312SerfsTer? | |
ENST00000253108.8:c.934del | ENSP00000253108.3:p.Val312SerfsTer? | |
ENST00000590158.1:n.953del | ||
ENST00000593054.5:c.328del | ENSP00000467187.1:p.Val110SerfsTer? | |
NM_003755.3:c.934del | NP_003746.2:p.Val312SerfsTer? | |
NM_003755.4:c.934del | NP_003746.2:p.Val312SerfsTer? | |
NM_003755.5:c.934del MANE Select | NP_003746.2:p.Val312SerfsTer? |