HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045218_5045226dup , CM000674.2:g.5045218_5045226dup | GRCh38 |
NC_000012.11:g.5154384_5154392dup , CM000674.1:g.5154384_5154392dup | GRCh37 |
NC_000012.10:g.5024645_5024653dup | NCBI36 |
NG_012198.1:g.6300_6308dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252321.5:c.1071_1079dup MANE Select | ENSP00000252321.3:p.Ile359_Ile360insMetAsnIle | |
ENST00000252321.4:c.1071_1079dup | ENSP00000252321.3:p.Ile359_Ile360insMetAsnIle | |
NM_002234.3:c.1071_1079dup | NP_002225.2:p.Ile359_Ile360insMetAsnIle | |
NM_002234.4:c.1071_1079dup MANE Select | NP_002225.2:p.Ile359_Ile360insMetAsnIle |