Canonical Allele Identifier: CA2697553646
Community Standard Title: NM_198239.2(CCN6):c.473dup (p.Leu160AlafsTer10)
Gene: CCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112064881dup , CM000668.2:g.112064881dup GRCh38
NC_000006.11:g.112386084dup , CM000668.1:g.112386084dup GRCh37
NC_000006.10:g.112492777dup NCBI36
NG_011748.1:g.15807dup

Transcript Alleles

HGVS Amino-acid Change
NM_198239.2:c.473dup MANE Select NP_937882.2:p.Leu160AlafsTer10
ENST00000368666.7:c.473dup MANE Select ENSP00000357655.4:p.Leu160AlafsTer10
NM_003880.3:c.473dup NP_003871.1:p.Leu160AlafsTer10
NM_003880.4:c.473dup NP_003871.1:p.Leu160AlafsTer10
NM_198239.1:c.527dup NP_937882.1:p.Leu178AlafsTer10
NR_125353.1:n.663dup
NR_125353.2:n.727dup
NR_125354.1:n.583dup
NR_125354.3:n.554dup
ENST00000230529.9:c.473dup ENSP00000230529.5:p.Leu160AlafsTer10
ENST00000361714.5:c.473dup ENSP00000354734.2:p.Leu160AlafsTer10
ENST00000368663.4:c.473dup ENSP00000357652.4:p.Leu160AlafsTer10
ENST00000368664.7:c.527dup ENSP00000357653.3:p.Leu178AlafsTer10
ENST00000368666.6:c.527dup ENSP00000357655.3:p.Leu178AlafsTer10
ENST00000409166.5:c.-264dup ENSP00000386467.1:n.-264dup
ENST00000454589.5:c.473dup ENSP00000395928.1:p.Leu160AlafsTer10
ENST00000604763.5:c.473dup ENSP00000473777.1:p.Leu160AlafsTer10
ENST00000613648.1:n.244dup
ENST00000620524.3:n.404dup
ENST00000639360.1:c.374dup ENSP00000491774.1:p.Leu127AlafsTer10
XM_011536220.1:c.473dup XP_011534522.1:p.Leu160AlafsTer10
XM_011536221.1:c.536dup XP_011534523.1:p.Leu181AlafsTer10
XM_011536222.1:c.516+95dup XP_011534524.1:n.516+95dup
XM_011536222.2:c.441+95dup XP_011534524.2:n.441+95dup
XM_011536223.1:c.-110dup XP_011534525.1:n.-110dup
XM_011536223.3:c.-110dup XP_011534525.1:n.-110dup
XR_001743705.1:n.1011dup