HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55811483_55811487dup , CM000673.2:g.55811483_55811487dup | GRCh38 |
NC_000011.9:g.55578959_55578963dup , CM000673.1:g.55578959_55578963dup | GRCh37 |
NC_000011.8:g.55335535_55335539dup | NCBI36 |
NG_052620.1:g.5117_5121dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000625203.2:c.17_21dup MANE Select | ENSP00000485319.1:p.Thr8AlafsTer18 | |
ENST00000333973.3:c.17_21dup | ENSP00000335529.2:p.Thr8AlafsTer18 | |
ENST00000623450.1:c.17_21dup | ENSP00000485509.1:p.Thr8AlafsTer18 | |
ENST00000625203.1:c.17_21dup | ENSP00000485319.1:p.Thr8AlafsTer18 | |
NM_001004738.1:c.17_21dup | NP_001004738.1:p.Thr8AlafsTer18 | |
NM_001004738.2:c.17_21dup MANE Select | NP_001004738.1:p.Thr8AlafsTer18 |