HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80273343_80273434del , CM000672.2:g.80273343_80273434del | GRCh38 |
NC_000010.10:g.82033099_82033190del , CM000672.1:g.82033099_82033190del | GRCh37 |
NC_000010.9:g.82023079_82023170del | NCBI36 |
NG_008083.1:g.21249_21340del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.*351_*442del MANE Select | ENSP00000361287.3:n.*351_*442del | |
ENST00000372213.7:c.*351_*442del | ENSP00000361287.3:n.*351_*442del | |
ENST00000480845.1:n.620+151_620+242del | ||
ENST00000485270.5:n.1051_1142del | ||
NM_000429.2:c.*351_*442del | NP_000420.1:n.*351_*442del | |
XM_005269842.3:c.*351_*442del | XP_005269899.1:n.*351_*442del | |
XM_005269843.3:c.*351_*442del | XP_005269900.1:n.*351_*442del | |
NM_000429.3:c.*351_*442del MANE Select | NP_000420.1:n.*351_*442del |