HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24255861_24255864del , CM000676.2:g.24255861_24255864del | GRCh38 |
NC_000014.8:g.24725067_24725070del , CM000676.1:g.24725067_24725070del | GRCh37 |
NC_000014.7:g.23794907_23794910del | NCBI36 |
NG_007150.1:g.12303_12306del | |
NG_007150.2:g.12303_12306del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1491+125_1491+128del MANE Select | ENSP00000206765.6:n.1491+125_1491+128del | |
ENST00000206765.10:c.1491+125_1491+128del | ENSP00000206765.6:n.1491+125_1491+128del | |
ENST00000544573.5:c.165+125_165+128del | ENSP00000439446.1:n.165+125_165+128del | |
ENST00000559136.1:c.564+125_564+128del | ENSP00000453337.1:n.564+125_564+128del | |
NM_000359.2:c.1491+125_1491+128del | NP_000350.1:n.1491+125_1491+128del | |
NM_000359.3:c.1491+125_1491+128del MANE Select | NP_000350.1:n.1491+125_1491+128del |