HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19953974_19953977del , CM000670.2:g.19953974_19953977del | GRCh38 |
NC_000008.10:g.19811485_19811488del , CM000670.1:g.19811485_19811488del | GRCh37 |
NC_000008.9:g.19855765_19855768del | NCBI36 |
NG_008855.1:g.19904_19907del | |
NG_008855.2:g.57258_57261del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.542-146_542-143del MANE Select | ENSP00000497642.1:n.542-146_542-143del | |
ENST00000311322.8:c.542-146_542-143del | ENSP00000309757.6:n.542-146_542-143del | |
ENST00000520959.5:c.314-146_314-143del | ENSP00000428496.1:n.314-146_314-143del | |
NM_000237.2:c.542-146_542-143del | NP_000228.1:n.542-146_542-143del | |
NM_000237.3:c.542-146_542-143del MANE Select | NP_000228.1:n.542-146_542-143del |