HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024008del , CM000663.2:g.17024008del | GRCh38 |
NC_000001.10:g.17350503del , CM000663.1:g.17350503del | GRCh37 |
NC_000001.9:g.17223090del | NCBI36 |
NG_012340.1:g.35164del , LRG_316:g.35164del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.437del | ENSP00000481376.2:p.Gly146GlufsTer17 | |
ENST00000491274.6:c.566del | ENSP00000480482.2:p.Gly189GlufsTer17 | |
ENST00000375499.8:c.608del MANE Select | ENSP00000364649.3:p.Gly203GlufsTer17 | |
ENST00000375499.7:c.608del | ENSP00000364649.3:p.Gly203GlufsTer17 | |
ENST00000485515.5:n.542del | ||
ENST00000491274.5:c.566del | ENSP00000480482.1:p.Gly189GlufsTer? | |
NM_003000.2:c.608del , LRG_316t1:c.608del | NP_002991.2:p.Gly203GlufsTer17 | |
NM_003000.3:c.608del MANE Select | NP_002991.2:p.Gly203GlufsTer17 |