HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23191842_23191843insAT , CM000670.2:g.23191842_23191843insAT | GRCh38 |
NC_000008.10:g.23049355_23049356insAT , CM000670.1:g.23049355_23049356insAT | GRCh37 |
NC_000008.9:g.23105300_23105301insAT | NCBI36 |
NG_032107.1:g.38325_38326insAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.1258_1259insAT MANE Select | ENSP00000221132.3:p.Gly420AspfsTer? | |
ENST00000221132.7:c.1258_1259insAT | ENSP00000221132.3:p.Gly420AspfsTer? | |
ENST00000519862.1:n.313_314insAT | ||
ENST00000613472.1:c.784_785insAT | ENSP00000480778.1:p.Gly262AspfsTer? | |
NM_003844.3:c.1258_1259insAT | NP_003835.3:p.Gly420AspfsTer? | |
NM_003844.4:c.1258_1259insAT MANE Select | NP_003835.3:p.Gly420AspfsTer? |