HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862710_4862711dup , CM000666.2:g.4862710_4862711dup | GRCh38 |
NC_000004.11:g.4864437_4864438dup , CM000666.1:g.4864437_4864438dup | GRCh37 |
NC_000004.10:g.4915338_4915339dup | NCBI36 |
NG_008121.1:g.8046_8047dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.479_480dup MANE Select | ENSP00000372170.4:p.Pro161AlafsTer? | |
ENST00000382723.4:c.479_480dup | ENSP00000372170.4:p.Pro161AlafsTer? | |
ENST00000468421.1:n.191_192dup | ||
NM_002448.3:c.479_480dup MANE Select | NP_002439.2:p.Pro161AlafsTer? |