HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114709487_114709489del , CM000663.2:g.114709487_114709489del | GRCh38 |
NC_000001.10:g.115252108_115252110del , CM000663.1:g.115252108_115252110del | GRCh37 |
NC_000001.9:g.115053631_115053633del | NCBI36 |
NG_007572.1:g.12408_12410del , LRG_92:g.12408_12410del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.450+82_450+84del MANE Select | ENSP00000358548.4:n.450+82_450+84del | |
ENST00000369535.4:c.450+82_450+84del | ENSP00000358548.4:n.450+82_450+84del | |
NM_002524.4:c.450+82_450+84del | NP_002515.1:n.450+82_450+84del | |
NM_002524.5:c.450+82_450+84del MANE Select | NP_002515.1:n.450+82_450+84del |