HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919944_89919946dup , CM000678.2:g.89919944_89919946dup | GRCh38 |
NC_000016.9:g.89986352_89986354dup , CM000678.1:g.89986352_89986354dup | GRCh37 |
NC_000016.8:g.88513853_88513855dup | NCBI36 |
NG_012026.1:g.7066_7068dup | |
NG_027810.1:g.2936_2938dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.686_688dup MANE Select | ENSP00000451605.1:p.Arg229_Pro230insArg | |
ENST00000639847.1:c.686_688dup | ENSP00000492011.1:p.Arg229_Pro230insArg | |
ENST00000555147.1:c.686_688dup | ENSP00000451605.1:p.Arg229_Pro230insArg | |
ENST00000555427.1:c.686_688dup | ENSP00000451760.1:p.Arg229_Pro230insArg | |
ENST00000556922.1:c.686_688dup | ENSP00000451560.1:p.Arg229_Pro230insArg | |
NM_002386.3:c.686_688dup | NP_002377.4:p.Arg229_Pro230insArg | |
NM_002386.4:c.686_688dup MANE Select | NP_002377.4:p.Arg229_Pro230insArg |