HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488277_52488282del , CM000674.2:g.52488277_52488282del | GRCh38 |
NC_000012.11:g.52882061_52882066del , CM000674.1:g.52882061_52882066del | GRCh37 |
NC_000012.10:g.51168328_51168333del | NCBI36 |
NG_008298.1:g.10116_10121del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1424+46_1424+51del MANE Select | ENSP00000369317.3:n.1424+46_1424+51del | |
ENST00000330722.6:c.1424+46_1424+51del | ENSP00000369317.3:n.1424+46_1424+51del | |
NM_005554.3:c.1424+46_1424+51del | NP_005545.1:n.1424+46_1424+51del | |
NM_005554.4:c.1424+46_1424+51del MANE Select | NP_005545.1:n.1424+46_1424+51del |