HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233003_55233004dup , CM000667.2:g.55233003_55233004dup | GRCh38 |
NC_000005.9:g.54528831_54528832dup , CM000667.1:g.54528831_54528832dup | GRCh37 |
NC_000005.8:g.54564588_54564589dup | NCBI36 |
NG_034201.1:g.5714_5715dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.381+139_381+140dup MANE Select | ENSP00000282572.4:n.381+139_381+140dup | |
ENST00000282572.4:c.381+139_381+140dup | ENSP00000282572.4:n.381+139_381+140dup | |
ENST00000501463.2:c.*124_*125dup | ENSP00000422485.1:n.*124_*125dup | |
NM_021147.4:c.381+139_381+140dup | NP_066970.3:n.381+139_381+140dup | |
NR_125346.1:n.714_715dup | ||
NR_125347.1:n.580+134_580+135dup | ||
NM_021147.5:c.381+139_381+140dup MANE Select | NP_066970.3:n.381+139_381+140dup | |
NR_125346.2:n.605_606dup | ||
NR_125347.2:n.471+134_471+135dup |