HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445720del , CM000663.2:g.15445720del | GRCh38 |
NC_000001.10:g.15772215del , CM000663.1:g.15772215del | GRCh37 |
NC_000001.9:g.15644802del | NCBI36 |
NG_009253.1:g.12278del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375949.5:c.763del MANE Select | ENSP00000365116.4:p.Val255CysfsTer? | |
ENST00000375943.6:c.*217del | ENSP00000365110.2:n.*217del | |
ENST00000375949.4:c.763del | ENSP00000365116.4:p.Val255CysfsTer? | |
ENST00000483406.1:n.527del | ||
NM_007272.2:c.763del | NP_009203.2:p.Val255CysfsTer? | |
XM_011540550.1:c.617del | XP_011538852.1:p.Gly206ValfsTer15 | |
NM_007272.3:c.763del MANE Select | NP_009203.2:p.Val255CysfsTer? |