HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658449_10658450del , CM000682.2:g.10658449_10658450del | GRCh38 |
NC_000020.10:g.10639097_10639098del , CM000682.1:g.10639097_10639098del | GRCh37 |
NC_000020.9:g.10587097_10587098del | NCBI36 |
NG_007496.1:g.20597_20598del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.694+18_694+19del MANE Select | ENSP00000254958.4:n.694+18_694+19del | |
ENST00000254958.9:c.694+18_694+19del | ENSP00000254958.4:n.694+18_694+19del | |
ENST00000423891.6:n.560+18_560+19del | ||
NM_000214.2:c.694+18_694+19del | NP_000205.1:n.694+18_694+19del | |
NM_000214.3:c.694+18_694+19del MANE Select | NP_000205.1:n.694+18_694+19del |