HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94852903del , CM000672.2:g.94852903del | GRCh38 |
NC_000010.10:g.96612660del , CM000672.1:g.96612660del | GRCh37 |
NC_000010.9:g.96602650del | NCBI36 |
NG_008384.2:g.95198del | |
NG_008384.3:g.95223del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.1462del MANE Select | ENSP00000360372.3:p.Ile488PhefsTer? | |
ENST00000645461.1:n.2373del | ||
ENST00000371321.7:c.1462del | ENSP00000360372.3:p.Ile488PhefsTer? | |
ENST00000464755.1:c.2225del | ENSP00000483243.1:n.2225del | |
NM_000769.2:c.1462del | NP_000760.1:p.Ile488PhefsTer? | |
NM_000769.4:c.1462del MANE Select | NP_000760.1:p.Ile488PhefsTer? |