HGVS | Genome Assembly |
---|---|
NC_000002.12:g.46350376del , CM000664.2:g.46350376del | GRCh38 |
NC_000002.11:g.46577515del , CM000664.1:g.46577515del | GRCh37 |
NC_000002.10:g.46431019del | NCBI36 |
NG_016000.1:g.57975del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263734.5:c.217+3313del MANE Select | ENSP00000263734.3:n.217+3313del | |
ENST00000263734.4:c.217+3313del | ENSP00000263734.3:n.217+3313del | |
ENST00000449347.5:c.217+3313del | ENSP00000406137.1:n.217+3313del | |
ENST00000475822.1:n.408+3313del | ||
NM_001430.4:c.217+3313del | NP_001421.2:n.217+3313del | |
XM_011532698.1:c.256+3313del | XP_011531000.1:n.256+3313del | |
XM_011532698.2:c.256+3313del | XP_011531000.1:n.256+3313del | |
NM_001430.5:c.217+3313del MANE Select | NP_001421.2:n.217+3313del |