HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519651_52519656dup , CM000674.2:g.52519651_52519656dup | GRCh38 |
NC_000012.11:g.52913435_52913440dup , CM000674.1:g.52913435_52913440dup | GRCh37 |
NC_000012.10:g.51199702_51199707dup | NCBI36 |
NG_008297.1:g.5805_5810dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.555+87_555+92dup MANE Select | ENSP00000252242.4:n.555+87_555+92dup | |
ENST00000252242.8:c.555+87_555+92dup | ENSP00000252242.4:n.555+87_555+92dup | |
ENST00000549420.1:c.225+87_225+92dup | ENSP00000447209.1:n.225+87_225+92dup | |
ENST00000552629.5:n.653+87_653+92dup | ||
NM_000424.3:c.555+87_555+92dup | NP_000415.2:n.555+87_555+92dup | |
NM_000424.4:c.555+87_555+92dup MANE Select | NP_000415.2:n.555+87_555+92dup |