HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713905_6713907del , CM000681.2:g.6713905_6713907del | GRCh38 |
NC_000019.9:g.6713916_6713918del , CM000681.1:g.6713916_6713918del | GRCh37 |
NC_000019.8:g.6664916_6664918del | NCBI36 |
NG_009557.1:g.11748_11750del , LRG_27:g.11748_11750del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.650+88_650+90del | ENSP00000512083.1:n.650+88_650+90del | |
ENST00000245907.11:c.773+88_773+90del MANE Select | ENSP00000245907.4:n.773+88_773+90del | |
ENST00000245907.10:c.773+88_773+90del | ENSP00000245907.4:n.773+88_773+90del | |
ENST00000595577.1:n.277+88_277+90del | ||
NM_000064.3:c.773+88_773+90del | NP_000055.2:n.773+88_773+90del | |
NM_000064.4:c.773+88_773+90del MANE Select | NP_000055.2:n.773+88_773+90del |