HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721982_42721984del , CM000668.2:g.42721982_42721984del | GRCh38 |
NC_000006.11:g.42689720_42689722del , CM000668.1:g.42689720_42689722del | GRCh37 |
NC_000006.10:g.42797698_42797700del | NCBI36 |
NG_009176.1:g.5642_5644del | |
NG_009176.2:g.5642_5644del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000230381.7:c.356_358del MANE Select | ENSP00000230381.5:p.Cys119del | |
ENST00000230381.6:c.356_358del | ENSP00000230381.5:p.Cys119del | |
NM_000322.4:c.356_358del | NP_000313.2:p.Cys119del | |
XR_427834.2:n.1011_1013del | ||
XR_926295.1:n.1011_1013del | ||
XR_427834.4:n.1061_1063del | ||
XR_926295.3:n.1061_1063del | ||
NM_000322.5:c.356_358del MANE Select | NP_000313.2:p.Cys119del |