HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183207992_183207993dup , CM000663.2:g.183207992_183207993dup | GRCh38 |
NC_000001.10:g.183177127_183177128dup , CM000663.1:g.183177127_183177128dup | GRCh37 |
NC_000001.9:g.181443750_181443751dup | NCBI36 |
NG_007079.2:g.26729_26730dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264144.5:c.191_192dup MANE Select | ENSP00000264144.4:p.Cys65ThrfsTer? | |
ENST00000264144.4:c.191_192dup | ENSP00000264144.4:p.Cys65ThrfsTer? | |
ENST00000493293.5:c.191_192dup | ENSP00000432063.1:p.Cys65ThrfsTer? | |
NM_005562.2:c.191_192dup | NP_005553.2:p.Cys65ThrfsTer? | |
NM_018891.2:c.191_192dup | NP_061486.2:p.Cys65ThrfsTer? | |
XM_017001273.2:c.191_192dup | XP_016856762.1:p.Cys65ThrfsTer? | |
NM_005562.3:c.191_192dup MANE Select | NP_005553.2:p.Cys65ThrfsTer? | |
NM_018891.3:c.191_192dup | NP_061486.2:p.Cys65ThrfsTer? |