HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268806_31268810del , CM000668.2:g.31268806_31268810del | GRCh38 |
NC_000006.11:g.31236583_31236587del , CM000668.1:g.31236583_31236587del | GRCh37 |
NC_000006.10:g.31344562_31344566del | NCBI36 |
NG_029422.2:g.8325_8329del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*362_*366del MANE Select | ENSP00000365402.5:n.*362_*366del | |
ENST00000376228.9:c.*362_*366del | ENSP00000365402.5:n.*362_*366del | |
ENST00000376237.8:c.*1050_*1054del | ENSP00000365412.4:n.*1050_*1054del | |
ENST00000383329.7:c.*362_*366del | ENSP00000372819.3:n.*362_*366del | |
ENST00000466892.5:n.696_700del | ||
ENST00000470363.5:n.1221_1225del | ||
ENST00000487245.5:n.1822_1826del | ||
NM_002117.5:c.*362_*366del | NP_002108.4:n.*362_*366del | |
NM_002117.6:c.*362_*366del MANE Select | NP_002108.4:n.*362_*366del |