HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658679del , CM000682.2:g.10658679del | GRCh38 |
NC_000020.10:g.10639327del , CM000682.1:g.10639327del | GRCh37 |
NC_000020.9:g.10587327del | NCBI36 |
NG_007496.1:g.20368del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.483del MANE Select | ENSP00000254958.4:p.Asn162ThrfsTer9 | |
ENST00000254958.9:c.483del | ENSP00000254958.4:p.Asn162ThrfsTer9 | |
ENST00000423891.6:n.349del | ||
NM_000214.2:c.483del | NP_000205.1:p.Asn162ThrfsTer9 | |
NM_000214.3:c.483del MANE Select | NP_000205.1:p.Asn162ThrfsTer9 |