HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31660105_31660125dup , CM000683.2:g.31660105_31660125dup | GRCh38 |
NC_000021.8:g.33032418_33032438dup , CM000683.1:g.33032418_33032438dup | GRCh37 |
NC_000021.7:g.31954289_31954309dup | NCBI36 |
NG_008689.1:g.5484_5504dup , LRG_652:g.5484_5504dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.72+264_72+284dup MANE Select | ENSP00000270142.7:n.72+264_72+284dup | |
ENST00000270142.10:c.72+264_72+284dup | ENSP00000270142.6:n.72+264_72+284dup | |
ENST00000389995.4:c.15+321_15+341dup | ENSP00000374645.4:n.15+321_15+341dup | |
ENST00000470944.1:n.397_417dup | ||
ENST00000476106.5:n.149+264_149+284dup | ||
NM_000454.4:c.72+264_72+284dup , LRG_652t1:c.72+264_72+284dup | NP_000445.1:n.72+264_72+284dup | |
NM_000454.5:c.72+264_72+284dup MANE Select | NP_000445.1:n.72+264_72+284dup |