HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423888_23423897del , CM000676.2:g.23423888_23423897del | GRCh38 |
NC_000014.8:g.23893097_23893106del , CM000676.1:g.23893097_23893106del | GRCh37 |
NC_000014.7:g.22962937_22962946del | NCBI36 |
NG_007884.1:g.16770_16779del , LRG_384:g.16770_16779del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.2922+15_2922+24del MANE Select | ENSP00000347507.3:n.2922+15_2922+24del | |
ENST00000355349.3:c.2922+15_2922+24del | ENSP00000347507.3:n.2922+15_2922+24del | |
NM_000257.3:c.2922+15_2922+24del | NP_000248.2:n.2922+15_2922+24del | |
XR_245686.3:n.3028+15_3028+24del | ||
XM_017021340.1:c.2922+15_2922+24del | XP_016876829.1:n.2922+15_2922+24del | |
NM_000257.4:c.2922+15_2922+24del MANE Select | NP_000248.2:n.2922+15_2922+24del |