Canonical Allele Identifier: CA2573140399

Gene: CCN6

Linked Data

• ClinVar Variation Id: 1683480
• ClinVar RCV Id: RCV002238738
• dbSNP Id: rs2114473419

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069566_112069569delinsATT , CM000668.2:g.112069566_112069569delinsATT	GRCh38
NC_000006.11:g.112390769_112390772delinsATT , CM000668.1:g.112390769_112390772delinsATT	GRCh37
NC_000006.10:g.112497462_112497465delinsATT	NCBI36
NG_011748.1:g.20492_20495delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1011_1014delinsATT MANE Select	ENSP00000357655.4:p.Cys337Ter
ENST00000639360.1:c.912_915delinsATT	ENSP00000491774.1:p.Cys304Ter
ENST00000230529.9:c.1011_1014delinsATT	ENSP00000230529.5:p.Cys337Ter
ENST00000361714.5:c.1011_1014delinsATT	ENSP00000354734.2:p.Cys337Ter
ENST00000368663.4:c.*317_*320delinsATT	ENSP00000357652.4:n.*317_*320delinsATT
ENST00000368664.7:c.*415_*418delinsATT	ENSP00000357653.3:n.*415_*418delinsATT
ENST00000368666.6:c.1065_1068delinsATT	ENSP00000357655.3:p.Cys355Ter
ENST00000409166.5:c.339_342delinsATT	ENSP00000386467.1:p.Cys113Ter
ENST00000454589.5:c.*415_*418delinsATT	ENSP00000395928.1:n.*415_*418delinsATT
ENST00000604763.5:c.1011_1014delinsATT	ENSP00000473777.1:p.Cys337Ter
ENST00000613648.1:n.846_849delinsATT
ENST00000620524.3:n.942_945delinsATT
NM_003880.3:c.1011_1014delinsATT	NP_003871.1:p.Cys337Ter
NM_198239.1:c.1065_1068delinsATT	NP_937882.1:p.Cys355Ter
NR_125353.1:n.1265_1268delinsATT
NR_125354.1:n.1185_1188delinsATT
XM_011536220.1:c.1011_1014delinsATT	XP_011534522.1:p.Cys337Ter
XM_011536221.1:c.*415_*418delinsATT	XP_011534523.1:n.*415_*418delinsATT
XM_011536223.1:c.429_432delinsATT	XP_011534525.1:p.Cys143Ter
XM_011536223.3:c.429_432delinsATT	XP_011534525.1:p.Cys143Ter
XR_001743705.1:n.1613_1616delinsATT
NM_003880.4:c.1011_1014delinsATT	NP_003871.1:p.Cys337Ter
NM_198239.2:c.1011_1014delinsATT MANE Select	NP_937882.2:p.Cys337Ter
NR_125353.2:n.1329_1332delinsATT
NR_125354.3:n.1156_1159delinsATT