HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981580_94981582del , CM000672.2:g.94981580_94981582del | GRCh38 |
NC_000010.10:g.96741337_96741339del , CM000672.1:g.96741337_96741339del | GRCh37 |
NC_000010.9:g.96731327_96731329del | NCBI36 |
NG_008385.1:g.47923_47925del | |
NG_008385.2:g.48423_48425del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1149+210_1149+212del MANE Select | ENSP00000260682.6:n.1149+210_1149+212del | |
ENST00000643112.1:c.*158+210_*158+212del | ENSP00000496202.1:n.*158+210_*158+212del | |
ENST00000260682.6:c.1149+210_1149+212del | ENSP00000260682.6:n.1149+210_1149+212del | |
NM_000771.3:c.1149+210_1149+212del | NP_000762.2:n.1149+210_1149+212del | |
NM_000771.4:c.1149+210_1149+212del MANE Select | NP_000762.2:n.1149+210_1149+212del |