HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583199_41583200dup , CM000679.2:g.41583199_41583200dup | GRCh38 |
NC_000017.10:g.39739451_39739452dup , CM000679.1:g.39739451_39739452dup | GRCh37 |
NC_000017.9:g.36992977_36992978dup | NCBI36 |
NG_008624.1:g.8696_8697dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.1274+35_1274+36dup MANE Select | ENSP00000167586.6:n.1274+35_1274+36dup | |
ENST00000167586.6:c.1274+35_1274+36dup | ENSP00000167586.6:n.1274+35_1274+36dup | |
ENST00000441550.2:n.221+35_221+36dup | ||
NM_000526.4:c.1274+35_1274+36dup | NP_000517.2:n.1274+35_1274+36dup | |
NM_000526.5:c.1274+35_1274+36dup MANE Select | NP_000517.3:n.1274+35_1274+36dup |