Allele Registry

Canonical Allele Identifier: CA212852

Gene: CCN6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.112061188del

GRCh37 chr6:g.112382391del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000006755

RCV000726875

ClinVar Variation:

6383

dbSNP:

797044438

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112061188del , CM000668.2:g.112061188del	GRCh38
NC_000006.11:g.112382391del , CM000668.1:g.112382391del	GRCh37
NC_000006.10:g.112489084del	NCBI36
NG_011748.1:g.12114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.246del MANE Select	ENSP00000357655.4:p.Glu84LysfsTer21
ENST00000639360.1:c.150del	ENSP00000491774.1:p.Glu52LysfsTer21
ENST00000230529.9:c.246del	ENSP00000230529.5:p.Glu84LysfsTer21
ENST00000361714.5:c.246del	ENSP00000354734.2:p.Glu84LysfsTer21
ENST00000368663.4:c.246del	ENSP00000357652.4:p.Glu84LysfsTer21
ENST00000368664.7:c.300del	ENSP00000357653.3:p.Glu102LysfsTer21
ENST00000368666.6:c.300del	ENSP00000357655.3:p.Glu102LysfsTer21
ENST00000409166.5:c.-507-91del	ENSP00000386467.1:n.-507-91del
ENST00000454589.5:c.246del	ENSP00000395928.1:p.Glu84LysfsTer21
ENST00000604763.5:c.246del	ENSP00000473777.1:p.Glu84LysfsTer21
ENST00000620524.3:n.180del
NM_003880.3:c.246del	NP_003871.1:p.Glu84LysfsTer21
NM_198239.1:c.300del	NP_937882.1:p.Glu102LysfsTer21
NR_125353.1:n.436del
NR_125354.1:n.356del
XM_011536220.1:c.246del	XP_011534522.1:p.Glu84LysfsTer21
XM_011536221.1:c.309del	XP_011534523.1:p.Glu105LysfsTer21
XM_011536222.1:c.384del	XP_011534524.1:p.Glu130LysfsTer21
XM_011536222.2:c.309del	XP_011534524.2:p.Glu105LysfsTer21
XR_001743705.1:n.784del
NM_003880.4:c.246del	NP_003871.1:p.Glu84LysfsTer21
NM_198239.2:c.246del MANE Select	NP_937882.2:p.Glu84LysfsTer21
NR_125353.2:n.500del
NR_125354.3:n.327del

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