HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131851412_131851419del , CM000668.2:g.131851412_131851419del | GRCh38 |
NC_000006.11:g.132172552_132172559del , CM000668.1:g.132172552_132172559del | GRCh37 |
NC_000006.10:g.132214245_132214252del | NCBI36 |
NG_008206.1:g.48397_48404del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647893.1:c.556+145_556+152del MANE Select | ENSP00000498074.1:n.556+145_556+152del | |
ENST00000650147.1:c.234+145_234+152del | ||
ENST00000650437.1:c.108+1306_108+1313del | ||
ENST00000360971.6:c.556+145_556+152del | ENSP00000354238.2:n.556+145_556+152del | |
ENST00000486853.1:n.721_728del | ||
ENST00000513998.5:c.556+145_556+152del | ENSP00000422424.1:n.556+145_556+152del | |
NM_006208.2:c.556+145_556+152del | NP_006199.2:n.556+145_556+152del | |
NM_006208.3:c.556+145_556+152del MANE Select | NP_006199.2:n.556+145_556+152del |