HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94781961_94781962insAA , CM000672.2:g.94781961_94781962insAA | GRCh38 |
NC_000010.10:g.96541718_96541719insAA , CM000672.1:g.96541718_96541719insAA | GRCh37 |
NC_000010.9:g.96531708_96531709insAA | NCBI36 |
NG_008384.2:g.24256_24257insAA | |
NG_008384.3:g.24281_24282insAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.783_784insAA MANE Select | ENSP00000360372.3:p.Asp262LysfsTer8 | |
ENST00000645461.1:n.1836_1837insAA | ||
ENST00000371321.7:c.783_784insAA | ENSP00000360372.3:p.Asp262LysfsTer8 | |
ENST00000464755.1:c.1546_1547insAA | ENSP00000483243.1:n.1546_1547insAA | |
NM_000769.2:c.783_784insAA | NP_000760.1:p.Asp262LysfsTer8 | |
NM_000769.4:c.783_784insAA MANE Select | NP_000760.1:p.Asp262LysfsTer8 |