HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24255873_24255875del , CM000676.2:g.24255873_24255875del | GRCh38 |
NC_000014.8:g.24725079_24725081del , CM000676.1:g.24725079_24725081del | GRCh37 |
NC_000014.7:g.23794919_23794921del | NCBI36 |
NG_007150.1:g.12292_12294del | |
NG_007150.2:g.12292_12294del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1491+114_1491+116del MANE Select | ENSP00000206765.6:n.1491+114_1491+116del | |
ENST00000206765.10:c.1491+114_1491+116del | ENSP00000206765.6:n.1491+114_1491+116del | |
ENST00000544573.5:c.165+114_165+116del | ENSP00000439446.1:n.165+114_165+116del | |
ENST00000559136.1:c.564+114_564+116del | ENSP00000453337.1:n.564+114_564+116del | |
NM_000359.2:c.1491+114_1491+116del | NP_000350.1:n.1491+114_1491+116del | |
NM_000359.3:c.1491+114_1491+116del MANE Select | NP_000350.1:n.1491+114_1491+116del |