HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47284679_47284680delinsGA , CM000679.2:g.47284679_47284680delinsGA | GRCh38 |
NC_000017.10:g.45362045_45362046delinsGA , CM000679.1:g.45362045_45362046delinsGA | GRCh37 |
NC_000017.9:g.42717044_42717045delinsGA | NCBI36 |
NG_008332.2:g.35838_35839delinsGA , LRG_481:g.35838_35839delinsGA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.598_599delinsGA | ENSP00000513002.1:p.Glu200= | |
ENST00000559488.7:c.598_599delinsGA MANE Select | ENSP00000452786.2:p.Glu200= | |
ENST00000559488.5:c.598_599delinsGA | ENSP00000452786.1:p.Glu200= | |
ENST00000560629.1:c.563_564delinsGA | ||
ENST00000571680.1:c.598_599delinsGA | ENSP00000461626.1:p.Glu200= | |
NM_000212.2:c.598_599delinsGA , LRG_481t1:c.598_599delinsGA | NP_000203.2:p.Glu200= | |
NM_000212.3:c.598_599delinsGA MANE Select | NP_000203.2:p.Glu200= |