HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988826_94988829del , CM000672.2:g.94988826_94988829del | GRCh38 |
NC_000010.10:g.96748583_96748586del , CM000672.1:g.96748583_96748586del | GRCh37 |
NC_000010.9:g.96738573_96738576del | NCBI36 |
NG_008385.1:g.55169_55172del | |
NG_008385.2:g.55669_55672del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1292-21_1292-18del MANE Select | ENSP00000260682.6:n.1292-21_1292-18del | |
ENST00000643112.1:c.*301-21_*301-18del | ENSP00000496202.1:n.*301-21_*301-18del | |
ENST00000260682.6:c.1292-21_1292-18del | ENSP00000260682.6:n.1292-21_1292-18del | |
NM_000771.3:c.1292-21_1292-18del | NP_000762.2:n.1292-21_1292-18del | |
NM_000771.4:c.1292-21_1292-18del MANE Select | NP_000762.2:n.1292-21_1292-18del |