HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89778466_89778468dup , CM000677.2:g.89778466_89778468dup | GRCh38 |
NC_000015.9:g.90321697_90321699dup , CM000677.1:g.90321697_90321699dup | GRCh37 |
NC_000015.8:g.88122701_88122703dup | NCBI36 |
NG_008608.1:g.7109_7111dup | |
NG_008608.2:g.22876_22878dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341735.5:c.*132_*134dup MANE Select | ENSP00000342392.3:n.*132_*134dup | |
ENST00000341735.3:c.1326_1328dup | ENSP00000342392.3:n.1326_1328dup | |
ENST00000558723.1:n.440_442dup | ||
ENST00000560219.2:c.*132_*134dup | ENSP00000452998.1:n.*132_*134dup | |
NM_001039958.1:c.1326_1328dup | NP_001035047.1:n.1326_1328dup | |
NM_001039958.2:c.*132_*134dup MANE Select | NP_001035047.1:n.*132_*134dup |