HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47573216del , CM000685.2:g.47573216del | GRCh38 |
NC_000023.10:g.47432615del , CM000685.1:g.47432615del | GRCh37 |
NC_000023.9:g.47317559del | NCBI36 |
NG_008437.1:g.51644del | |
NG_016339.1:g.17100del | |
NG_016339.2:g.17100del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1983-215del MANE Select | ENSP00000295987.7:n.1983-215del | |
ENST00000340666.5:c.1983-253del | ENSP00000343206.4:n.1983-253del | |
ENST00000640721.1:c.71-253del | ENSP00000492857.1:n.71-253del | |
ENST00000295987.11:c.1983-215del | ENSP00000295987.7:n.1983-215del | |
ENST00000340666.4:c.1983-253del | ENSP00000343206.4:n.1983-253del | |
NM_006950.3:c.1983-215del MANE Select | NP_008881.2:n.1983-215del | |
NM_133499.2:c.1983-253del | NP_598006.1:n.1983-253del |