HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268907_31268909dup , CM000668.2:g.31268907_31268909dup | GRCh38 |
NC_000006.11:g.31236684_31236686dup , CM000668.1:g.31236684_31236686dup | GRCh37 |
NC_000006.10:g.31344663_31344665dup | NCBI36 |
NG_029422.2:g.8223_8225dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*260_*262dup MANE Select | ENSP00000365402.5:n.*260_*262dup | |
ENST00000376228.9:c.*260_*262dup | ENSP00000365402.5:n.*260_*262dup | |
ENST00000376237.8:c.*948_*950dup | ENSP00000365412.4:n.*948_*950dup | |
ENST00000383329.7:c.*260_*262dup | ENSP00000372819.3:n.*260_*262dup | |
ENST00000466892.5:n.594_596dup | ||
ENST00000470363.5:n.1119_1121dup | ||
ENST00000487245.5:n.1720_1722dup | ||
NM_002117.5:c.*260_*262dup | NP_002108.4:n.*260_*262dup | |
NM_002117.6:c.*260_*262dup MANE Select | NP_002108.4:n.*260_*262dup |