HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204166258_204166260dup , CM000663.2:g.204166258_204166260dup | GRCh38 |
NC_000001.10:g.204135386_204135388dup , CM000663.1:g.204135386_204135388dup | GRCh37 |
NC_000001.9:g.202402009_202402011dup | NCBI36 |
NG_012122.1:g.5089_5091dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272190.9:c.45_47dup MANE Select | ENSP00000272190.8:p.Leu16_Trp17insLeu | |
ENST00000638118.1:c.-16-4086_-16-4084dup | ENSP00000490307.1:n.-16-4086_-16-4084dup | |
ENST00000272190.8:c.45_47dup | ENSP00000272190.8:p.Leu16_Trp17insLeu | |
NM_000537.3:c.45_47dup | NP_000528.1:p.Leu16_Trp17insLeu | |
NM_000537.4:c.45_47dup MANE Select | NP_000528.1:p.Leu16_Trp17insLeu |