HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835456del , CM000670.2:g.117835456del | GRCh38 |
NC_000008.10:g.118847695del , CM000670.1:g.118847695del | GRCh37 |
NC_000008.9:g.118916876del | NCBI36 |
NG_007455.2:g.281364del , LRG_493:g.281364del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.619del | ||
ENST00000378204.7:c.1152del MANE Select | ENSP00000367446.3:p.Arg384SerfsTer19 | |
ENST00000436216.2:c.520del | ||
ENST00000378204.6:c.1152del | ENSP00000367446.2:p.Arg384SerfsTer19 | |
ENST00000436216.1:c.520del | ||
ENST00000437196.1:c.*43del | ENSP00000407299.1:n.*43del | |
NM_000127.2:c.1152del , LRG_493t1:c.1152del | NP_000118.2:p.Arg384SerfsTer19 | |
NM_000127.3:c.1152del MANE Select | NP_000118.2:p.Arg384SerfsTer19 |