HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271153del , CM000668.2:g.31271153del | GRCh38 |
NC_000006.11:g.31238930del , CM000668.1:g.31238930del | GRCh37 |
NC_000006.10:g.31346909del | NCBI36 |
NG_029422.2:g.5979del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.539del MANE Select | ENSP00000365402.5:p.Leu180ArgfsTer? | |
ENST00000376228.9:c.539del | ENSP00000365402.5:p.Leu180ArgfsTer? | |
ENST00000376237.8:c.*126del | ENSP00000365412.4:n.*126del | |
ENST00000383329.7:c.539del | ENSP00000372819.3:p.Leu180ArgfsTer? | |
ENST00000415537.1:c.537del | ||
ENST00000484378.1:n.808del | ||
ENST00000487245.5:n.898del | ||
ENST00000495835.1:n.728del | ||
NM_002117.5:c.539del | NP_002108.4:p.Leu180ArgfsTer? | |
NM_002117.6:c.539del MANE Select | NP_002108.4:p.Leu180ArgfsTer? |