Canonical Allele Identifier: CA2580066096

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2441647
• ClinVar RCV Id: RCV003147874

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334681del , CM000664.2:g.237334681del	GRCh38
NC_000002.11:g.238243324del , CM000664.1:g.238243324del	GRCh37
NC_000002.10:g.237908063del	NCBI36
NG_008676.1:g.84528del , LRG_473:g.84528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1132del
ENST00000353578.9:c.8557del	ENSP00000315873.4:p.Val2853SerfsTer4
ENST00000682957.1:c.1302del
ENST00000683348.1:c.43del	ENSP00000508058.1:p.Val15SerfsTer4
ENST00000295550.9:c.9175del MANE Select	ENSP00000295550.4:p.Val3059SerfsTer4
ENST00000295550.8:c.9175del	ENSP00000295550.4:p.Val3059SerfsTer4
ENST00000347401.7:c.7351del	ENSP00000315609.4:p.Val2451SerfsTer4
ENST00000353578.8:c.8557del	ENSP00000315873.4:p.Val2853SerfsTer4
ENST00000409809.5:c.8557del	ENSP00000386844.1:p.Val2853SerfsTer4
ENST00000472056.5:c.7354del	ENSP00000418285.1:p.Val2452SerfsTer4
ENST00000491769.1:n.5617del
ENST00000493608.1:n.107del
NM_004369.3:c.9175del , LRG_473t1:c.9175del	NP_004360.2:p.Val3059SerfsTer4
NM_057166.4:c.7354del	NP_476507.3:p.Val2452SerfsTer4
NM_057167.3:c.8557del	NP_476508.2:p.Val2853SerfsTer4
XM_005246065.1:c.8575del	XP_005246122.1:p.Val2859SerfsTer4
XM_005246066.1:c.7954del	XP_005246123.1:p.Val2652SerfsTer4
XM_006712253.1:c.8674del	XP_006712316.1:p.Val2892SerfsTer4
XM_011510574.1:c.9172del	XP_011508876.1:p.Val3058SerfsTer4
XM_011510575.1:c.6769del	XP_011508877.1:p.Val2257SerfsTer4
XM_017003304.1:c.6769del	XP_016858793.1:p.Val2257SerfsTer4
XM_024452684.1:c.7954del	XP_024308452.1:p.Val2652SerfsTer4
NM_004369.4:c.9175del MANE Select	NP_004360.2:p.Val3059SerfsTer4
NM_057166.5:c.7354del	NP_476507.3:p.Val2452SerfsTer4
NM_057167.4:c.8557del	NP_476508.2:p.Val2853SerfsTer4