HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715931del , CM000684.2:g.37715931del | GRCh38 |
NC_000022.10:g.38111938del , CM000684.1:g.38111938del | GRCh37 |
NC_000022.9:g.36441884del | NCBI36 |
NG_012857.1:g.23944del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.625del MANE Select | ENSP00000496394.1:p.Glu209ArgfsTer? | |
ENST00000344404.10:c.*108del | ENSP00000340312.6:n.*108del | |
ENST00000406386.7:c.625del | ENSP00000384312.3:p.Glu209ArgfsTer? | |
ENST00000455236.4:c.1582del | ENSP00000477208.1:n.1582del | |
ENST00000492485.5:n.559del | ||
NM_001039141.2:c.625del | NP_001034230.1:p.Glu209ArgfsTer? | |
NM_001039141.3:c.625del MANE Select | NP_001034230.1:p.Glu209ArgfsTer? |