HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74754850_74754851dup , CM000677.2:g.74754850_74754851dup | GRCh38 |
NC_000015.9:g.75047191_75047192dup , CM000677.1:g.75047191_75047192dup | GRCh37 |
NC_000015.8:g.72834244_72834245dup | NCBI36 |
NG_008431.1:g.37309_37310dup | |
NG_008431.2:g.37309_37310dup | |
NG_061543.1:g.11006_11007dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.1313_1314dup MANE Select | ENSP00000342007.4:p.Ala439LeufsTer7 | |
ENST00000343932.4:c.1313_1314dup | ENSP00000342007.4:p.Ala439LeufsTer7 | |
NM_000761.4:c.1313_1314dup | NP_000752.2:p.Ala439LeufsTer7 | |
NM_000761.5:c.1313_1314dup MANE Select | NP_000752.2:p.Ala439LeufsTer7 |