HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48703677_48703679del , CM000681.2:g.48703677_48703679del | GRCh38 |
NC_000019.9:g.49206934_49206936del , CM000681.1:g.49206934_49206936del | GRCh37 |
NC_000019.8:g.53898746_53898748del | NCBI36 |
NG_007511.1:g.12707_12709del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000425340.3:c.721_723del MANE Select | ENSP00000387498.2:p.Val241del | |
ENST00000522966.2:c.721_723del | ENSP00000430227.2:p.Val241del | |
ENST00000391876.5:c.721_723del | ENSP00000375748.4:p.Val241del | |
ENST00000425340.2:c.721_723del | ENSP00000387498.2:p.Val241del | |
NM_000511.5:c.721_723del | NP_000502.4:p.Val241del | |
NM_001097638.2:c.721_723del | NP_001091107.1:p.Val241del | |
NR_131188.1:n.170_172del | ||
NM_000511.6:c.721_723del MANE Select | NP_000502.4:p.Val241del | |
NM_001097638.3:c.721_723del | NP_001091107.1:p.Val241del |