HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44960567_44960568insAA , CM000679.2:g.44960567_44960568insAA | GRCh38 |
NC_000017.10:g.43037935_43037936insAA , CM000679.1:g.43037935_43037936insAA | GRCh37 |
NC_000017.9:g.40393461_40393462insAA | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253407.4:c.598-201_598-200insTT (C1QL1) MANE Select | ENSP00000253407.2:n.598-201_598-200insTT | |
ENST00000678938.1:c.-110+2505_-110+2506insAA (NMT1) | ENSP00000503621.1:n.-110+2505_-110+2506insAA | |
ENST00000253407.3:c.598-201_598-200insTT (C1QL1) | ENSP00000253407.2:n.598-201_598-200insTT | |
NM_006688.4:c.598-201_598-200insTT (C1QL1) | NP_006679.1:n.598-201_598-200insTT | |
NM_006688.5:c.598-201_598-200insTT (C1QL1) MANE Select | NP_006679.1:n.598-201_598-200insTT |