HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646747_68646750dup , CM000666.2:g.68646747_68646750dup | GRCh38 |
NC_000004.11:g.69512465_69512468dup , CM000666.1:g.69512465_69512468dup | GRCh37 |
NC_000004.10:g.69195060_69195063dup | NCBI36 |
NG_052676.1:g.29030_29033dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*357_*360dup MANE Select | ENSP00000341045.5:n.*357_*360dup | |
ENST00000338206.5:c.*357_*360dup | ENSP00000341045.5:n.*357_*360dup | |
ENST00000616841.4:c.1732+218_1732+221dup | ENSP00000482004.1:n.1732+218_1732+221dup | |
NM_001076.3:c.*357_*360dup | NP_001067.2:n.*357_*360dup | |
NM_001076.4:c.*357_*360dup MANE Select | NP_001067.2:n.*357_*360dup |