Canonical Allele Identifier: CA2663792155

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336159-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336161del , CM000664.2:g.237336161del	GRCh38
NC_000002.11:g.238244804del , CM000664.1:g.238244804del	GRCh37
NC_000002.10:g.237909543del	NCBI36
NG_008676.1:g.83048del , LRG_473:g.83048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1585del
ENST00000353578.9:c.8322del	ENSP00000315873.4:p.Lys2775SerfsTer20
ENST00000682957.1:c.1067del
ENST00000684508.1:n.1207del
ENST00000295550.9:c.8940del MANE Select	ENSP00000295550.4:p.Lys2981SerfsTer20
ENST00000295550.8:c.8940del	ENSP00000295550.4:p.Lys2981SerfsTer20
ENST00000347401.7:c.7116del	ENSP00000315609.4:p.Lys2373SerfsTer20
ENST00000353578.8:c.8322del	ENSP00000315873.4:p.Lys2775SerfsTer20
ENST00000409809.5:c.8322del	ENSP00000386844.1:p.Lys2775SerfsTer20
ENST00000472056.5:c.7119del	ENSP00000418285.1:p.Lys2374SerfsTer20
ENST00000491769.1:n.5382del
NM_004369.3:c.8940del , LRG_473t1:c.8940del	NP_004360.2:p.Lys2981SerfsTer20
NM_057166.4:c.7119del	NP_476507.3:p.Lys2374SerfsTer20
NM_057167.3:c.8322del	NP_476508.2:p.Lys2775SerfsTer20
XM_005246065.1:c.8340del	XP_005246122.1:p.Lys2781SerfsTer20
XM_005246066.1:c.7719del	XP_005246123.1:p.Lys2574SerfsTer20
XM_006712253.1:c.8439del	XP_006712316.1:p.Lys2814SerfsTer20
XM_011510574.1:c.8937del	XP_011508876.1:p.Lys2980SerfsTer20
XM_011510575.1:c.6534del	XP_011508877.1:p.Lys2179SerfsTer20
XM_017003304.1:c.6534del	XP_016858793.1:p.Lys2179SerfsTer20
XM_024452684.1:c.7719del	XP_024308452.1:p.Lys2574SerfsTer20
NM_004369.4:c.8940del MANE Select	NP_004360.2:p.Lys2981SerfsTer20
NM_057166.5:c.7119del	NP_476507.3:p.Lys2374SerfsTer20
NM_057167.4:c.8322del	NP_476508.2:p.Lys2775SerfsTer20