HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551627_43551630del , CM000681.2:g.43551627_43551630del | GRCh38 |
NC_000019.9:g.44055779_44055782del , CM000681.1:g.44055779_44055782del | GRCh37 |
NC_000019.8:g.48747619_48747622del | NCBI36 |
NG_033799.1:g.28952_28955del , LRG_784:g.28952_28955del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1143_1146del MANE Select | ENSP00000262887.5:p.Lys383SerfsTer? | |
ENST00000262887.9:c.1143_1146del | ENSP00000262887.4:p.Lys383SerfsTer? | |
ENST00000543982.5:c.1050_1053del | ENSP00000443671.1:p.Lys352SerfsTer? | |
ENST00000597811.5:c.753_756del | ||
NM_006297.2:c.1143_1146del , LRG_784t1:c.1143_1146del | NP_006288.2:p.Lys383SerfsTer? | |
NM_006297.3:c.1143_1146del MANE Select | NP_006288.2:p.Lys383SerfsTer? |