HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2866647_2866651del , CM000686.2:g.2866647_2866651del | GRCh38 |
NC_000024.9:g.2734688_2734692del , CM000686.1:g.2734688_2734692del | GRCh37 |
NC_000024.8:g.2794688_2794692del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250784.13:c.691-146_691-142del MANE Select | ENSP00000250784.7:n.691-146_691-142del | |
ENST00000250784.12:c.691-146_691-142del | ENSP00000250784.7:n.691-146_691-142del | |
ENST00000430575.1:c.718-146_718-142del | ENSP00000415317.1:n.718-146_718-142del | |
ENST00000477725.1:n.835-146_835-142del | ||
ENST00000515575.1:n.42+11876_42+11880del | ||
NM_001008.3:c.691-146_691-142del | NP_000999.1:n.691-146_691-142del | |
NM_001008.4:c.691-146_691-142del MANE Select | NP_000999.1:n.691-146_691-142del |