HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19957555_19957557del , CM000670.2:g.19957555_19957557del | GRCh38 |
NC_000008.10:g.19815066_19815068del , CM000670.1:g.19815066_19815068del | GRCh37 |
NC_000008.9:g.19859346_19859348del | NCBI36 |
NG_008855.1:g.23485_23487del | |
NG_008855.2:g.60839_60841del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.1018+1472_1018+1474del MANE Select | ENSP00000497642.1:n.1018+1472_1018+1474de... | |
ENST00000650478.1:c.79+1472_79+1474del | ENSP00000497560.1:n.79+1472_79+1474del | |
ENST00000311322.8:c.1018+1472_1018+1474del | ENSP00000309757.6:n.1018+1472_1018+1474de... | |
NM_000237.2:c.1018+1472_1018+1474del | NP_000228.1:n.1018+1472_1018+1474del | |
NM_000237.3:c.1018+1472_1018+1474del MANE Select | NP_000228.1:n.1018+1472_1018+1474del |