HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23191860_23191861insAAAAAAAAAAA , CM000670.2:g.23191860_23191861insAAAAAAAAAAA | GRCh38 |
NC_000008.10:g.23049373_23049374insAAAAAAAAAAA , CM000670.1:g.23049373_23049374insAAAAAAAAAAA | GRCh37 |
NC_000008.9:g.23105318_23105319insAAAAAAAAAAA | NCBI36 |
NG_032107.1:g.38307_38308insTTTTTTTTTTT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221132.8:c.1240_1241insTTTTTTTTTTT MANE Select | ENSP00000221132.3:p.Lys414IlefsTer? | |
ENST00000221132.7:c.1240_1241insTTTTTTTTTTT | ENSP00000221132.3:p.Lys414IlefsTer? | |
ENST00000519862.1:n.295_296insTTTTTTTTTTT | ||
ENST00000613472.1:c.766_767insTTTTTTTTTTT | ENSP00000480778.1:p.Lys256IlefsTer? | |
NM_003844.3:c.1240_1241insTTTTTTTTTTT | NP_003835.3:p.Lys414IlefsTer? | |
NM_003844.4:c.1240_1241insTTTTTTTTTTT MANE Select | NP_003835.3:p.Lys414IlefsTer? |