HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24145616_24145621dup , CM000668.2:g.24145616_24145621dup | GRCh38 |
NC_000006.11:g.24145844_24145849dup , CM000668.1:g.24145844_24145849dup | GRCh37 |
NC_000006.10:g.24253823_24253828dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378491.9:c.258_263dup MANE Select | ENSP00000367752.4:p.Pro88_Lys89insProPro | |
ENST00000378477.2:c.258_263dup | ENSP00000367738.2:p.Pro88_Lys89insProPro | |
ENST00000378478.5:c.258_263dup | ENSP00000367739.2:p.Pro88_Lys89insProPro | |
ENST00000378491.8:c.258_263dup | ENSP00000367752.4:p.Pro88_Lys89insProPro | |
ENST00000468195.2:n.257-9155_257-9150dup | ||
NM_080723.4:c.258_263dup | NP_542454.3:p.Pro88_Lys89insProPro | |
NM_080723.5:c.258_263dup MANE Select | NP_542454.3:p.Pro88_Lys89insProPro |