HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658516del , CM000682.2:g.10658516del | GRCh38 |
NC_000020.10:g.10639164del , CM000682.1:g.10639164del | GRCh37 |
NC_000020.9:g.10587164del | NCBI36 |
NG_007496.1:g.20532del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.647del MANE Select | ENSP00000254958.4:p.Gly216AlafsTer? | |
ENST00000254958.9:c.647del | ENSP00000254958.4:p.Gly216AlafsTer? | |
ENST00000423891.6:n.513del | ||
NM_000214.2:c.647del | NP_000205.1:p.Gly216AlafsTer? | |
NM_000214.3:c.647del MANE Select | NP_000205.1:p.Gly216AlafsTer? |