HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713190dup , CM000681.2:g.6713190dup | GRCh38 |
NC_000019.9:g.6713201dup , CM000681.1:g.6713201dup | GRCh37 |
NC_000019.8:g.6664201dup | NCBI36 |
NG_009557.1:g.12462dup , LRG_27:g.12462dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.879dup | ENSP00000512083.1:p.Gly294ArgfsTer3 | |
ENST00000695654.1:c.126dup | ENSP00000512085.1:p.Gly43ArgfsTer3 | |
ENST00000695692.1:n.326dup | ||
ENST00000245907.11:c.1002dup MANE Select | ENSP00000245907.4:p.Gly335ArgfsTer3 | |
ENST00000245907.10:c.1002dup | ENSP00000245907.4:p.Gly335ArgfsTer3 | |
ENST00000594270.5:n.126dup | ||
ENST00000595577.1:n.506dup | ||
ENST00000597442.5:n.252dup | ||
NM_000064.3:c.1002dup | NP_000055.2:p.Gly335ArgfsTer3 | |
NM_000064.4:c.1002dup MANE Select | NP_000055.2:p.Gly335ArgfsTer3 |