HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667338dup , CM000683.2:g.31667338dup | GRCh38 |
NC_000021.8:g.33039651dup , CM000683.1:g.33039651dup | GRCh37 |
NC_000021.7:g.31961522dup | NCBI36 |
NG_008689.1:g.12717dup , LRG_652:g.12717dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.320dup MANE Select | ENSP00000270142.7:p.Ser108LeufsTer15 | |
ENST00000270142.10:c.320dup | ENSP00000270142.6:p.Ser108LeufsTer15 | |
ENST00000389995.4:c.263dup | ENSP00000374645.4:p.Ser89LeufsTer15 | |
ENST00000470944.1:n.1248dup | ||
ENST00000476106.5:n.583dup | ||
NM_000454.4:c.320dup , LRG_652t1:c.320dup | NP_000445.1:p.Ser108LeufsTer15 | |
NM_000454.5:c.320dup MANE Select | NP_000445.1:p.Ser108LeufsTer15 |