HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31125633_31125635dup , CM000668.2:g.31125633_31125635dup | GRCh38 |
NC_000006.11:g.31093410_31093412dup , CM000668.1:g.31093410_31093412dup | GRCh37 |
NC_000006.10:g.31201389_31201391dup | NCBI36 |
NG_021348.1:g.15803_15805dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.-228-43_-228-41dup MANE Select | ENSP00000259881.9:n.-228-43_-228-41dup | |
ENST00000259881.9:c.-228-43_-228-41dup | ENSP00000259881.9:n.-228-43_-228-41dup | |
ENST00000479581.5:n.61+10742_61+10744dup | ||
ENST00000548049.1:n.120-46_120-44dup | ||
ENST00000550838.1:n.59-106_59-104dup | ||
ENST00000552747.1:n.53+10742_53+10744dup | ||
NM_014068.2:c.-228-43_-228-41dup | NP_054787.2:n.-228-43_-228-41dup | |
NM_014068.3:c.-228-43_-228-41dup MANE Select | NP_054787.2:n.-228-43_-228-41dup |