HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234075_1234076insCC , CM000669.2:g.1234075_1234076insCC | GRCh38 |
NC_000007.13:g.1273711_1273712insCC , CM000669.1:g.1273711_1273712insCC | GRCh37 |
NC_000007.12:g.1240237_1240238insCC | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316333.9:c.450+380_450+381insCC MANE Select | ENSP00000314480.8:n.450+380_450+381insCC | |
ENST00000316333.8:c.450+380_450+381insCC | ENSP00000314480.8:n.450+380_450+381insCC | |
NM_001080461.1:c.450+380_450+381insCC | NP_001073930.1:n.450+380_450+381insCC | |
NM_001080461.2:c.450+380_450+381insCC | NP_001073930.1:n.450+380_450+381insCC | |
NM_001080461.3:c.450+380_450+381insCC MANE Select | NP_001073930.1:n.450+380_450+381insCC |