HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432182dup , CM000663.2:g.229432182dup | GRCh38 |
NC_000001.10:g.229567929dup , CM000663.1:g.229567929dup | GRCh37 |
NC_000001.9:g.227634552dup | NCBI36 |
NG_006672.1:g.6915dup , LRG_429:g.6915dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.620dup | ENSP00000355644.4:p.Arg208AlafsTer? | |
ENST00000684723.1:c.485dup | ENSP00000508084.1:p.Arg163AlafsTer? | |
ENST00000366683.3:c.479+225dup | ENSP00000355644.3:n.479+225dup | |
ENST00000366684.7:c.620dup MANE Select | ENSP00000355645.3:p.Arg208AlafsTer? | |
NM_001100.3:c.620dup , LRG_429t1:c.620dup | NP_001091.1:p.Arg208AlafsTer? | |
NM_001100.4:c.620dup MANE Select | NP_001091.1:p.Arg208AlafsTer? |