HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145670_38145674del , CM000670.2:g.38145670_38145674del | GRCh38 |
NC_000008.10:g.38003188_38003192del , CM000670.1:g.38003188_38003192del | GRCh37 |
NC_000008.9:g.38122345_38122349del | NCBI36 |
NG_011827.1:g.10413_10417del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.650+293_650+297del MANE Select | ENSP00000276449.3:n.650+293_650+297del | |
ENST00000276449.8:c.650+293_650+297del | ENSP00000276449.3:n.650+293_650+297del | |
ENST00000520114.1:n.1430_1434del | ||
ENST00000522050.1:c.586+293_586+297del | ||
NM_000349.2:c.650+293_650+297del | NP_000340.2:n.650+293_650+297del | |
XM_006716392.1:c.650+293_650+297del | XP_006716455.1:n.650+293_650+297del | |
NM_000349.3:c.650+293_650+297del MANE Select | NP_000340.2:n.650+293_650+297del |