HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6036358_6036360del , CM000674.2:g.6036358_6036360del | GRCh38 |
NC_000012.11:g.6145524_6145526del , CM000674.1:g.6145524_6145526del | GRCh37 |
NC_000012.10:g.6015785_6015787del | NCBI36 |
NG_009072.1:g.93311_93313del | |
NG_009072.2:g.93311_93313del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.2546+28_2546+30del MANE Select | ENSP00000261405.5:n.2546+28_2546+30del | |
ENST00000261405.9:c.2546+28_2546+30del | ENSP00000261405.5:n.2546+28_2546+30del | |
ENST00000538635.5:n.421-42426_421-42424del | ||
NM_000552.3:c.2546+28_2546+30del | NP_000543.2:n.2546+28_2546+30del | |
NM_000552.4:c.2546+28_2546+30del | NP_000543.2:n.2546+28_2546+30del | |
NM_000552.5:c.2546+28_2546+30del MANE Select | NP_000543.3:n.2546+28_2546+30del |