HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2315225_2315244del , CM000678.2:g.2315225_2315244del | GRCh38 |
NC_000016.9:g.2365226_2365245del , CM000678.1:g.2365226_2365245del | GRCh37 |
NC_000016.8:g.2305227_2305246del | NCBI36 |
NG_011790.1:g.30524_30543del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.1111+2060_1111+2079del MANE Select | ENSP00000301732.5:n.1111+2060_1111+2079del | |
ENST00000301732.9:c.1111+2060_1111+2079del | ENSP00000301732.5:n.1111+2060_1111+2079del | |
ENST00000382381.7:c.1111+2060_1111+2079del | ENSP00000371818.3:n.1111+2060_1111+2079del | |
ENST00000563623.5:n.1674+2060_1674+2079del | ||
NM_001089.2:c.1111+2060_1111+2079del | NP_001080.2:n.1111+2060_1111+2079del | |
NM_001089.3:c.1111+2060_1111+2079del MANE Select | NP_001080.2:n.1111+2060_1111+2079del |