HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48468056del , CM000677.2:g.48468056del | GRCh38 |
NC_000015.9:g.48760253del , CM000677.1:g.48760253del | GRCh37 |
NC_000015.8:g.46547545del | NCBI36 |
NG_008805.2:g.182733del , LRG_778:g.182733del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4629del | ENSP00000453958.2:p.Asp1543GlufsTer? | |
ENST00000674301.2:c.4629del | ENSP00000501333.2:p.Asp1543GlufsTer? | |
ENST00000684448.1:n.3303del | ||
ENST00000316623.10:c.4629del MANE Select | ENSP00000325527.5:p.Asp1543GlufsTer? | |
ENST00000316623.9:c.4629del | ENSP00000325527.5:p.Asp1543GlufsTer? | |
ENST00000537463.6:c.*392del | ENSP00000440294.2:n.*392del | |
NM_000138.4:c.4629del , LRG_778t1:c.4629del | NP_000129.3:p.Asp1543GlufsTer? | |
NM_000138.5:c.4629del MANE Select | NP_000129.3:p.Asp1543GlufsTer? |