HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045080_5045085dup , CM000674.2:g.5045080_5045085dup | GRCh38 |
NC_000012.11:g.5154246_5154251dup , CM000674.1:g.5154246_5154251dup | GRCh37 |
NC_000012.10:g.5024507_5024512dup | NCBI36 |
NG_012198.1:g.6162_6167dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.933_938dup MANE Select | ENSP00000252321.3:p.Ala313_Pro314insValAla | |
ENST00000252321.4:c.933_938dup | ENSP00000252321.3:p.Ala313_Pro314insValAla | |
NM_002234.3:c.933_938dup | NP_002225.2:p.Ala313_Pro314insValAla | |
NM_002234.4:c.933_938dup MANE Select | NP_002225.2:p.Ala313_Pro314insValAla |