HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173515_173516dup , CM000678.2:g.173515_173516dup | GRCh38 |
NC_000016.9:g.223514_223515dup , CM000678.1:g.223514_223515dup | GRCh37 |
NC_000016.8:g.163514_163515dup | NCBI36 |
NG_000006.1:g.34378_34379dup | |
NG_059186.1:g.1865_1866dup | |
NG_059271.1:g.5669_5670dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.344_345dup MANE Select | ENSP00000251595.6:p.Ala116ProfsTer19 | |
ENST00000251595.10:c.344_345dup | ENSP00000251595.6:p.Ala116ProfsTer19 | |
ENST00000397806.1:c.248_249dup | ENSP00000380908.1:p.Ala84ProfsTer19 | |
ENST00000482565.1:n.480_481dup | ||
NM_000517.4:c.344_345dup | NP_000508.1:p.Ala116ProfsTer19 | |
NM_000517.6:c.344_345dup MANE Select | NP_000508.1:p.Ala116ProfsTer19 |