HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233275_55233279del , CM000667.2:g.55233275_55233279del | GRCh38 |
NC_000005.9:g.54529103_54529107del , CM000667.1:g.54529103_54529107del | GRCh37 |
NC_000005.8:g.54564860_54564864del | NCBI36 |
NG_034201.1:g.5442_5446del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282572.5:c.248_252del MANE Select | ENSP00000282572.4:p.Leu83ArgfsTer? | |
ENST00000282572.4:c.248_252del | ENSP00000282572.4:p.Leu83ArgfsTer? | |
ENST00000501463.2:c.248_252del | ENSP00000422485.1:p.Leu83ArgfsTer? | |
NM_021147.4:c.248_252del | NP_066970.3:p.Leu83ArgfsTer? | |
NR_125346.1:n.442_446del | ||
NR_125347.1:n.442_446del | ||
NM_021147.5:c.248_252del MANE Select | NP_066970.3:p.Leu83ArgfsTer? | |
NR_125346.2:n.333_337del | ||
NR_125347.2:n.333_337del |