HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2315311_2315312del , CM000678.2:g.2315311_2315312del | GRCh38 |
NC_000016.9:g.2365312_2365313del , CM000678.1:g.2365312_2365313del | GRCh37 |
NC_000016.8:g.2305313_2305314del | NCBI36 |
NG_011790.1:g.30436_30437del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.1111+1972_1111+1973del MANE Select | ENSP00000301732.5:n.1111+1972_1111+1973del | |
ENST00000301732.9:c.1111+1972_1111+1973del | ENSP00000301732.5:n.1111+1972_1111+1973del | |
ENST00000382381.7:c.1111+1972_1111+1973del | ENSP00000371818.3:n.1111+1972_1111+1973del | |
ENST00000563623.5:n.1674+1972_1674+1973del | ||
NM_001089.2:c.1111+1972_1111+1973del | NP_001080.2:n.1111+1972_1111+1973del | |
NM_001089.3:c.1111+1972_1111+1973del MANE Select | NP_001080.2:n.1111+1972_1111+1973del |