HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233019_55233020dup , CM000667.2:g.55233019_55233020dup | GRCh38 |
NC_000005.9:g.54528847_54528848dup , CM000667.1:g.54528847_54528848dup | GRCh37 |
NC_000005.8:g.54564604_54564605dup | NCBI36 |
NG_034201.1:g.5698_5699dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.381+123_381+124dup MANE Select | ENSP00000282572.4:n.381+123_381+124dup | |
ENST00000282572.4:c.381+123_381+124dup | ENSP00000282572.4:n.381+123_381+124dup | |
ENST00000501463.2:c.*108_*109dup | ENSP00000422485.1:n.*108_*109dup | |
NM_021147.4:c.381+123_381+124dup | NP_066970.3:n.381+123_381+124dup | |
NR_125346.1:n.698_699dup | ||
NR_125347.1:n.580+118_580+119dup | ||
NM_021147.5:c.381+123_381+124dup MANE Select | NP_066970.3:n.381+123_381+124dup | |
NR_125346.2:n.589_590dup | ||
NR_125347.2:n.471+118_471+119dup |