HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94941885_94941886del , CM000672.2:g.94941885_94941886del | GRCh38 |
NC_000010.10:g.96701642_96701643del , CM000672.1:g.96701642_96701643del | GRCh37 |
NC_000010.9:g.96691632_96691633del | NCBI36 |
NG_008385.1:g.8228_8229del | |
NG_008385.2:g.8728_8729del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.196_197del MANE Select | ENSP00000260682.6:p.Thr66SerfsTer15 | |
ENST00000643112.1:c.196_197del | ENSP00000496202.1:p.Thr66SerfsTer15 | |
ENST00000645207.1:n.349_350del | ||
ENST00000260682.6:c.196_197del | ENSP00000260682.6:p.Thr66SerfsTer15 | |
ENST00000461906.1:n.221_222del | ||
NM_000771.3:c.196_197del | NP_000762.2:p.Thr66SerfsTer15 | |
NM_000771.4:c.196_197del MANE Select | NP_000762.2:p.Thr66SerfsTer15 |