HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4911985del , CM000674.2:g.4911985del | GRCh38 |
NC_000012.11:g.5021151del , CM000674.1:g.5021151del | GRCh37 |
NC_000012.10:g.4891412del | NCBI36 |
NG_011815.1:g.7079del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.607del MANE Select | ENSP00000371985.3:p.His203ThrfsTer? | |
ENST00000543874.3:n.105+1513del | ||
ENST00000639306.1:c.445del | ENSP00000492506.1:p.His149ThrfsTer? | |
ENST00000382545.3:c.607del | ENSP00000371985.3:p.His203ThrfsTer? | |
ENST00000541095.1:n.105+1513del | ||
ENST00000543874.2:n.96+1513del | ||
NM_000217.2:c.607del | NP_000208.2:p.His203ThrfsTer? | |
NM_000217.3:c.607del MANE Select | NP_000208.2:p.His203ThrfsTer? |