HGVS | Genome Assembly |
---|---|
NC_000012.12:g.80669476dup , CM000674.2:g.80669476dup | GRCh38 |
NC_000012.11:g.81063255dup , CM000674.1:g.81063255dup | GRCh37 |
NC_000012.10:g.79587386dup | NCBI36 |
NG_034052.1:g.230131dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644991.3:c.6453+12dup MANE Select | ENSP00000495607.1:n.6453+12dup | |
ENST00000614701.4:c.6453+12dup | ENSP00000482885.1:n.6453+12dup | |
ENST00000616559.4:c.6552+12dup | ENSP00000483259.1:n.6552+12dup | |
NM_001145026.1:c.6453+12dup | NP_001138498.1:n.6453+12dup | |
XM_011538290.1:c.6519+12dup | XP_011536592.1:n.6519+12dup | |
XR_945142.1:n.111-22719dup | ||
XM_017019273.1:c.7164+12dup | XP_016874762.1:n.7164+12dup | |
XM_017019274.1:c.7119+12dup | XP_016874763.1:n.7119+12dup | |
XR_001749222.1:n.120+37642dup | ||
NM_001145026.2:c.6453+12dup MANE Select | NP_001138498.1:n.6453+12dup |