HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23422307del , CM000676.2:g.23422307del | GRCh38 |
NC_000014.8:g.23891516del , CM000676.1:g.23891516del | GRCh37 |
NC_000014.7:g.22961356del | NCBI36 |
NG_007884.1:g.18355del , LRG_384:g.18355del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3118del MANE Select | ENSP00000347507.3:p.Gln1040LysfsTer20 | |
ENST00000355349.3:c.3118del | ENSP00000347507.3:p.Gln1040LysfsTer20 | |
NM_000257.3:c.3118del | NP_000248.2:p.Gln1040LysfsTer20 | |
XR_245686.3:n.3224del | ||
XM_017021340.1:c.3118del | XP_016876829.1:p.Gln1040LysfsTer20 | |
NM_000257.4:c.3118del MANE Select | NP_000248.2:p.Gln1040LysfsTer20 |