HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6058123_6058124dup , CM000674.2:g.6058123_6058124dup | GRCh38 |
NC_000012.11:g.6167289_6167290dup , CM000674.1:g.6167289_6167290dup | GRCh37 |
NC_000012.10:g.6037550_6037551dup | NCBI36 |
NG_009072.1:g.71547_71548dup | |
NG_009072.2:g.71547_71548dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.1534-80_1534-79dup MANE Select | ENSP00000261405.5:n.1534-80_1534-79dup | |
ENST00000261405.9:c.1534-80_1534-79dup | ENSP00000261405.5:n.1534-80_1534-79dup | |
ENST00000538635.5:n.420+52391_420+52392dup | ||
NM_000552.3:c.1534-80_1534-79dup | NP_000543.2:n.1534-80_1534-79dup | |
NM_000552.4:c.1534-80_1534-79dup | NP_000543.2:n.1534-80_1534-79dup | |
NM_000552.5:c.1534-80_1534-79dup MANE Select | NP_000543.3:n.1534-80_1534-79dup |