HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270043_31270044insGA , CM000668.2:g.31270043_31270044insGA | GRCh38 |
NC_000006.11:g.31237820_31237821insGA , CM000668.1:g.31237820_31237821insGA | GRCh37 |
NC_000006.10:g.31345799_31345800insGA | NCBI36 |
NG_029422.2:g.7088_7089insTC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.937_938insTC MANE Select | ENSP00000365402.5:p.Ala313ValfsTer10 | |
ENST00000376228.9:c.937_938insTC | ENSP00000365402.5:p.Ala313ValfsTer10 | |
ENST00000376237.8:c.*524_*525insTC | ENSP00000365412.4:n.*524_*525insTC | |
ENST00000383329.7:c.937_938insTC | ENSP00000372819.3:p.Ala313ValfsTer10 | |
ENST00000470363.5:n.255_256insTC | ||
ENST00000487245.5:n.1296_1297insTC | ||
NM_002117.5:c.937_938insTC | NP_002108.4:p.Ala313ValfsTer10 | |
NM_002117.6:c.937_938insTC MANE Select | NP_002108.4:p.Ala313ValfsTer10 |