HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23425613_23425615del , CM000676.2:g.23425613_23425615del | GRCh38 |
NC_000014.8:g.23894822_23894824del , CM000676.1:g.23894822_23894824del | GRCh37 |
NC_000014.7:g.22964662_22964664del | NCBI36 |
NG_007884.1:g.15048_15050del , LRG_384:g.15048_15050del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.2286+81_2286+83del MANE Select | ENSP00000347507.3:n.2286+81_2286+83del | |
ENST00000355349.3:c.2286+81_2286+83del | ENSP00000347507.3:n.2286+81_2286+83del | |
NM_000257.3:c.2286+81_2286+83del | NP_000248.2:n.2286+81_2286+83del | |
XR_245686.3:n.2392+81_2392+83del | ||
XM_017021340.1:c.2286+81_2286+83del | XP_016876829.1:n.2286+81_2286+83del | |
NM_000257.4:c.2286+81_2286+83del MANE Select | NP_000248.2:n.2286+81_2286+83del |