Canonical Allele Identifier: CA2697550605

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237354913dup , CM000664.2:g.237354913dup	GRCh38
NC_000002.11:g.238263556dup , CM000664.1:g.238263556dup	GRCh37
NC_000002.10:g.237928295dup	NCBI36
NG_008676.1:g.64300dup , LRG_473:g.64300dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6618dup MANE Select	NP_004360.2:p.Gly2207ArgfsTer3
ENST00000295550.9:c.6618dup MANE Select	ENSP00000295550.4:p.Gly2207ArgfsTer3
NM_004369.3:c.6618dup , LRG_473t1:c.6618dup	NP_004360.2:p.Gly2207ArgfsTer3
NM_057166.4:c.4797dup	NP_476507.3:p.Gly1600ArgfsTer3
NM_057166.5:c.4797dup	NP_476507.3:p.Gly1600ArgfsTer3
NM_057167.3:c.6000dup	NP_476508.2:p.Gly2001ArgfsTer3
NM_057167.4:c.6000dup	NP_476508.2:p.Gly2001ArgfsTer3
ENST00000295550.8:c.6618dup	ENSP00000295550.4:p.Gly2207ArgfsTer3
ENST00000347401.7:c.4797dup	ENSP00000315609.4:p.Gly1600ArgfsTer3
ENST00000353578.8:c.6000dup	ENSP00000315873.4:p.Gly2001ArgfsTer3
ENST00000353578.9:c.6000dup	ENSP00000315873.4:p.Gly2001ArgfsTer3
ENST00000409809.5:c.6000dup	ENSP00000386844.1:p.Gly2001ArgfsTer3
ENST00000472056.5:c.4797dup	ENSP00000418285.1:p.Gly1600ArgfsTer3
ENST00000491769.1:n.872dup
XM_005246065.1:c.6018dup	XP_005246122.1:p.Gly2007ArgfsTer3
XM_005246066.1:c.5397dup	XP_005246123.1:p.Gly1800ArgfsTer3
XM_006712253.1:c.6117dup	XP_006712316.1:p.Gly2040ArgfsTer3
XM_011510574.1:c.6615dup	XP_011508876.1:p.Gly2206ArgfsTer3
XM_011510575.1:c.4212dup	XP_011508877.1:p.Gly1405ArgfsTer3
XM_017003304.1:c.4212dup	XP_016858793.1:p.Gly1405ArgfsTer3
XM_024452684.1:c.5397dup	XP_024308452.1:p.Gly1800ArgfsTer3