Canonical Allele Identifier: CA1093230453

Gene: CCN6

Linked Data

• dbSNP Id: rs1776814376
• gnomAD v3: 6-112069557-T-TTG
• gnomAD v4: 6-112069557-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069565_112069566dup , CM000668.2:g.112069565_112069566dup	GRCh38
NC_000006.11:g.112390768_112390769dup , CM000668.1:g.112390768_112390769dup	GRCh37
NC_000006.10:g.112497461_112497462dup	NCBI36
NG_011748.1:g.20491_20492dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1010_1011dup MANE Select	ENSP00000357655.4:p.Gln338ValfsTer?
ENST00000639360.1:c.911_912dup	ENSP00000491774.1:p.Gln305ValfsTer?
ENST00000230529.9:c.1010_1011dup	ENSP00000230529.5:p.Gln338ValfsTer?
ENST00000361714.5:c.1010_1011dup	ENSP00000354734.2:p.Gln338ValfsTer?
ENST00000368663.4:c.*316_*317dup	ENSP00000357652.4:n.*316_*317dup
ENST00000368664.7:c.*414_*415dup	ENSP00000357653.3:n.*414_*415dup
ENST00000368666.6:c.1064_1065dup	ENSP00000357655.3:p.Gln356ValfsTer?
ENST00000409166.5:c.338_339dup	ENSP00000386467.1:p.Gln114ValfsTer?
ENST00000454589.5:c.*414_*415dup	ENSP00000395928.1:n.*414_*415dup
ENST00000604763.5:c.1010_1011dup	ENSP00000473777.1:p.Gln338ValfsTer?
ENST00000613648.1:n.845_846dup
ENST00000620524.3:n.941_942dup
NM_003880.3:c.1010_1011dup	NP_003871.1:p.Gln338ValfsTer?
NM_198239.1:c.1064_1065dup	NP_937882.1:p.Gln356ValfsTer?
NR_125353.1:n.1264_1265dup
NR_125354.1:n.1184_1185dup
XM_011536220.1:c.1010_1011dup	XP_011534522.1:p.Gln338ValfsTer?
XM_011536221.1:c.*414_*415dup	XP_011534523.1:n.*414_*415dup
XM_011536223.1:c.428_429dup	XP_011534525.1:p.Gln144ValfsTer?
XM_011536223.3:c.428_429dup	XP_011534525.1:p.Gln144ValfsTer?
XR_001743705.1:n.1612_1613dup
NM_003880.4:c.1010_1011dup	NP_003871.1:p.Gln338ValfsTer?
NM_198239.2:c.1010_1011dup MANE Select	NP_937882.2:p.Gln338ValfsTer?
NR_125353.2:n.1328_1329dup
NR_125354.3:n.1155_1156dup