HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271066dup , CM000668.2:g.31271066dup | GRCh38 |
NC_000006.11:g.31238843dup , CM000668.1:g.31238843dup | GRCh37 |
NC_000006.10:g.31346822dup | NCBI36 |
NG_029422.2:g.6069dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.619+10dup MANE Select | ENSP00000365402.5:n.619+10dup | |
ENST00000376228.9:c.619+10dup | ENSP00000365402.5:n.619+10dup | |
ENST00000376237.8:c.*206+10dup | ENSP00000365412.4:n.*206+10dup | |
ENST00000383329.7:c.619+10dup | ENSP00000372819.3:n.619+10dup | |
ENST00000415537.1:c.617+10dup | ||
ENST00000487245.5:n.978+10dup | ||
ENST00000495835.1:n.808+10dup | ||
NM_002117.5:c.619+10dup | NP_002108.4:n.619+10dup | |
NM_002117.6:c.619+10dup MANE Select | NP_002108.4:n.619+10dup |