HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308429del , CM000685.2:g.30308429del | GRCh38 |
NC_000023.10:g.30326546del , CM000685.1:g.30326546del | GRCh37 |
NC_000023.9:g.30236467del | NCBI36 |
NG_009814.1:g.5950del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378970.5:c.935del MANE Select | ENSP00000368253.4:p.Ser312TrpfsTer? | |
ENST00000378963.1:c.50del | ENSP00000368246.1:p.Ser17TrpfsTer? | |
ENST00000378970.4:c.935del | ENSP00000368253.4:p.Ser312TrpfsTer? | |
NM_000475.4:c.935del | NP_000466.2:p.Ser312TrpfsTer? | |
NM_000475.5:c.935del MANE Select | NP_000466.2:p.Ser312TrpfsTer? |