HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665834_39665839dup , CM000679.2:g.39665834_39665839dup | GRCh38 |
NC_000017.10:g.37822087_37822092dup , CM000679.1:g.37822087_37822092dup | GRCh37 |
NC_000017.9:g.35075613_35075618dup | NCBI36 |
NG_008892.1:g.5489_5494dup , LRG_210:g.5489_5494dup | |
NG_042278.1:g.2854_2859dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.229_234dup MANE Select | ENSP00000312624.2:p.Leu78_Gln79insGlyLeu | |
ENST00000309889.2:c.229_234dup | ENSP00000312624.2:p.Leu78_Gln79insGlyLeu | |
ENST00000578283.1:c.175-18_175-13dup | ENSP00000462787.1:n.175-18_175-13dup | |
NM_003673.3:c.229_234dup , LRG_210t1:c.229_234dup | NP_003664.1:p.Leu78_Gln79insGlyLeu | |
NM_003673.4:c.229_234dup MANE Select | NP_003664.1:p.Leu78_Gln79insGlyLeu |