Canonical Allele Identifier: CA916807165

Gene: COL6A3

Linked Data

• dbSNP Id: rs1574931680

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336336dup , CM000664.2:g.237336336dup	GRCh38
NC_000002.11:g.238244979dup , CM000664.1:g.238244979dup	GRCh37
NC_000002.10:g.237909718dup	NCBI36
NG_008676.1:g.82873dup , LRG_473:g.82873dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1410dup
ENST00000353578.9:c.8147dup	ENSP00000315873.4:p.Val2717CysfsTer9
ENST00000682957.1:c.892dup
ENST00000684508.1:n.1032dup
ENST00000295550.9:c.8765dup MANE Select	ENSP00000295550.4:p.Val2923CysfsTer9
ENST00000295550.8:c.8765dup	ENSP00000295550.4:p.Val2923CysfsTer9
ENST00000347401.7:c.6941dup	ENSP00000315609.4:p.Val2315CysfsTer9
ENST00000353578.8:c.8147dup	ENSP00000315873.4:p.Val2717CysfsTer9
ENST00000409809.5:c.8147dup	ENSP00000386844.1:p.Val2717CysfsTer9
ENST00000472056.5:c.6944dup	ENSP00000418285.1:p.Val2316CysfsTer9
ENST00000491769.1:n.5207dup
NM_004369.3:c.8765dup , LRG_473t1:c.8765dup	NP_004360.2:p.Val2923CysfsTer9
NM_057166.4:c.6944dup	NP_476507.3:p.Val2316CysfsTer9
NM_057167.3:c.8147dup	NP_476508.2:p.Val2717CysfsTer9
XM_005246065.1:c.8165dup	XP_005246122.1:p.Val2723CysfsTer9
XM_005246066.1:c.7544dup	XP_005246123.1:p.Val2516CysfsTer9
XM_006712253.1:c.8264dup	XP_006712316.1:p.Val2756CysfsTer9
XM_011510574.1:c.8762dup	XP_011508876.1:p.Val2922CysfsTer9
XM_011510575.1:c.6359dup	XP_011508877.1:p.Val2121CysfsTer9
XM_017003304.1:c.6359dup	XP_016858793.1:p.Val2121CysfsTer9
XM_024452684.1:c.7544dup	XP_024308452.1:p.Val2516CysfsTer9
NM_004369.4:c.8765dup MANE Select	NP_004360.2:p.Val2923CysfsTer9
NM_057166.5:c.6944dup	NP_476507.3:p.Val2316CysfsTer9
NM_057167.4:c.8147dup	NP_476508.2:p.Val2717CysfsTer9