HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646739_68646741dup , CM000666.2:g.68646739_68646741dup | GRCh38 |
NC_000004.11:g.69512457_69512459dup , CM000666.1:g.69512457_69512459dup | GRCh37 |
NC_000004.10:g.69195052_69195054dup | NCBI36 |
NG_052676.1:g.29045_29047dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*372_*374dup MANE Select | ENSP00000341045.5:n.*372_*374dup | |
ENST00000338206.5:c.*372_*374dup | ENSP00000341045.5:n.*372_*374dup | |
ENST00000616841.4:c.1732+233_1732+235dup | ENSP00000482004.1:n.1732+233_1732+235dup | |
NM_001076.3:c.*372_*374dup | NP_001067.2:n.*372_*374dup | |
NM_001076.4:c.*372_*374dup MANE Select | NP_001067.2:n.*372_*374dup |