HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45990468_45990475del , CM000683.2:g.45990468_45990475del | GRCh38 |
NC_000021.8:g.47410382_47410389del , CM000683.1:g.47410382_47410389del | GRCh37 |
NC_000021.7:g.46234810_46234817del | NCBI36 |
NG_008674.1:g.13720_13727del , LRG_475:g.13720_13727del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.1002+46_1002+53del MANE Select | ENSP00000355180.3:n.1002+46_1002+53del | |
ENST00000361866.7:c.1002+46_1002+53del | ENSP00000355180.3:n.1002+46_1002+53del | |
ENST00000612273.1:c.1002+46_1002+53del | ENSP00000483630.1:n.1002+46_1002+53del | |
NM_001848.2:c.1002+46_1002+53del , LRG_475t1:c.1002+46_1002+53del | NP_001839.2:n.1002+46_1002+53del | |
NM_001848.3:c.1002+46_1002+53del MANE Select | NP_001839.2:n.1002+46_1002+53del |