HGVS | Genome Assembly |
---|---|
NC_000014.9:g.95535175_95535182dup , CM000676.2:g.95535175_95535182dup | GRCh38 |
NC_000014.8:g.96001512_96001519dup , CM000676.1:g.96001512_96001519dup | GRCh37 |
NC_000014.7:g.95071265_95071272dup | NCBI36 |
NG_021217.1:g.5190_5197dup | |
NG_033103.1:g.4697_4704dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331334.5:c.86_93dup MANE Select | ENSP00000328570.4:p.Ala32CysfsTer21 | |
ENST00000331334.4:c.86_93dup | ENSP00000328570.4:p.Ala32CysfsTer21 | |
ENST00000553672.1:n.301+1372_301+1379dup | ||
NM_016417.2:c.86_93dup | NP_057501.2:p.Ala32CysfsTer21 | |
NM_016417.3:c.86_93dup MANE Select | NP_057501.2:p.Ala32CysfsTer21 |