HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117807284del , CM000670.2:g.117807284del | GRCh38 |
NC_000008.10:g.118819523del , CM000670.1:g.118819523del | GRCh37 |
NC_000008.9:g.118888704del | NCBI36 |
NG_007455.2:g.309536del , LRG_493:g.309536del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684189.1:n.1283del | ||
ENST00000378204.7:c.1816del MANE Select | ENSP00000367446.3:p.Trp606GlyfsTer15 | |
ENST00000378204.6:c.1816del | ENSP00000367446.2:p.Trp606GlyfsTer15 | |
ENST00000437196.1:c.*707del | ENSP00000407299.1:n.*707del | |
NM_000127.2:c.1816del , LRG_493t1:c.1816del | NP_000118.2:p.Trp606GlyfsTer15 | |
NM_000127.3:c.1816del MANE Select | NP_000118.2:p.Trp606GlyfsTer15 |