HGVS | Genome Assembly |
---|---|
NC_000005.10:g.147831548dup , CM000667.2:g.147831548dup | GRCh38 |
NC_000005.9:g.147211111dup , CM000667.1:g.147211111dup | GRCh37 |
NC_000005.8:g.147191304dup | NCBI36 |
NG_008356.2:g.12684dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296695.10:c.30dup MANE Select | ENSP00000296695.5:p.Ala11CysfsTer10 | |
ENST00000296695.9:c.30dup | ENSP00000296695.5:p.Ala11CysfsTer10 | |
ENST00000510027.2:c.30dup | ENSP00000427376.1:p.Ala11CysfsTer10 | |
NM_003122.4:c.30dup | NP_003113.2:p.Ala11CysfsTer10 | |
NM_001354966.1:c.30dup | NP_001341895.1:p.Ala11CysfsTer10 | |
NM_001354966.2:c.30dup | NP_001341895.1:p.Ala11CysfsTer10 | |
NM_001379610.1:c.30dup MANE Select | NP_001366539.1:p.Ala11CysfsTer10 | |
NM_003122.5:c.30dup | NP_003113.2:p.Ala11CysfsTer10 |