HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713767_6713769del , CM000681.2:g.6713767_6713769del | GRCh38 |
NC_000019.9:g.6713778_6713780del , CM000681.1:g.6713778_6713780del | GRCh37 |
NC_000019.8:g.6664778_6664780del | NCBI36 |
NG_009557.1:g.11883_11885del , LRG_27:g.11883_11885del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.650+223_650+225del | ENSP00000512083.1:n.650+223_650+225del | |
ENST00000245907.11:c.773+223_773+225del MANE Select | ENSP00000245907.4:n.773+223_773+225del | |
ENST00000245907.10:c.773+223_773+225del | ENSP00000245907.4:n.773+223_773+225del | |
ENST00000595577.1:n.277+223_277+225del | ||
ENST00000597442.5:n.20_22del | ||
NM_000064.3:c.773+223_773+225del | NP_000055.2:n.773+223_773+225del | |
NM_000064.4:c.773+223_773+225del MANE Select | NP_000055.2:n.773+223_773+225del |