HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19953981_19953985del , CM000670.2:g.19953981_19953985del | GRCh38 |
NC_000008.10:g.19811492_19811496del , CM000670.1:g.19811492_19811496del | GRCh37 |
NC_000008.9:g.19855772_19855776del | NCBI36 |
NG_008855.1:g.19911_19915del | |
NG_008855.2:g.57265_57269del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.542-139_542-135del MANE Select | ENSP00000497642.1:n.542-139_542-135del | |
ENST00000311322.8:c.542-139_542-135del | ENSP00000309757.6:n.542-139_542-135del | |
ENST00000520959.5:c.314-139_314-135del | ENSP00000428496.1:n.314-139_314-135del | |
NM_000237.2:c.542-139_542-135del | NP_000228.1:n.542-139_542-135del | |
NM_000237.3:c.542-139_542-135del MANE Select | NP_000228.1:n.542-139_542-135del |