HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74421977_74421979dup , CM000685.2:g.74421977_74421979dup | GRCh38 |
NC_000023.10:g.73641812_73641814dup , CM000685.1:g.73641812_73641814dup | GRCh37 |
NC_000023.9:g.73558537_73558539dup | NCBI36 |
NG_011641.1:g.5728_5730dup | |
NG_011641.2:g.5728_5730dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.340_342dup MANE Select | ENSP00000465734.1:p.Ile114_Phe115insIle | |
ENST00000636771.1:c.86_88dup | ||
ENST00000587091.5:c.340_342dup | ENSP00000465734.1:p.Ile114_Phe115insIle | |
NM_006517.4:c.340_342dup | NP_006508.2:p.Ile114_Phe115insIle | |
XM_005262294.1:c.340_342dup | XP_005262351.1:p.Ile114_Phe115insIle | |
XM_011531015.1:c.340_342dup | XP_011529317.1:p.Ile114_Phe115insIle | |
NM_006517.5:c.340_342dup MANE Select | NP_006508.2:p.Ile114_Phe115insIle |