HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988975_94988976del , CM000672.2:g.94988975_94988976del | GRCh38 |
NC_000010.10:g.96748732_96748733del , CM000672.1:g.96748732_96748733del | GRCh37 |
NC_000010.9:g.96738722_96738723del | NCBI36 |
NG_008385.1:g.55318_55319del | |
NG_008385.2:g.55818_55819del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1420_1421del MANE Select | ENSP00000260682.6:p.Asn474TrpfsTer? | |
ENST00000643112.1:c.*429_*430del | ENSP00000496202.1:n.*429_*430del | |
ENST00000260682.6:c.1420_1421del | ENSP00000260682.6:p.Asn474TrpfsTer? | |
NM_000771.3:c.1420_1421del | NP_000762.2:p.Asn474TrpfsTer? | |
NM_000771.4:c.1420_1421del MANE Select | NP_000762.2:p.Asn474TrpfsTer? |