HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178415_24178416dup , CM000668.2:g.24178415_24178416dup | GRCh38 |
NC_000006.11:g.24178643_24178644dup , CM000668.1:g.24178643_24178644dup | GRCh37 |
NC_000006.10:g.24286622_24286623dup | NCBI36 |
NG_012829.1:g.184638_184639dup | |
NG_012829.2:g.209878_209879dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1241_1242dup MANE Select | ENSP00000367715.3:p.Glu415ArgfsTer14 | |
ENST00000378450.6:c.500_501dup | ENSP00000367711.3:p.Glu168ArgfsTer14 | |
ENST00000378454.7:c.1241_1242dup | ENSP00000367715.3:p.Glu415ArgfsTer14 | |
NM_001195610.1:c.1241_1242dup | NP_001182539.1:p.Glu415ArgfsTer14 | |
NM_016356.4:c.1241_1242dup | NP_057440.2:p.Glu415ArgfsTer14 | |
NM_016356.5:c.1241_1242dup MANE Select | NP_057440.2:p.Glu415ArgfsTer14 | |
NM_001195610.2:c.1241_1242dup | NP_001182539.1:p.Glu415ArgfsTer14 |