Canonical Allele Identifier: CA2573051898

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1180614
• ClinVar RCV Id: RCV001814343
• dbSNP Id: rs2106314700

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336466del , CM000664.2:g.237336466del	GRCh38
NC_000002.11:g.238245109del , CM000664.1:g.238245109del	GRCh37
NC_000002.10:g.237909848del	NCBI36
NG_008676.1:g.82742del , LRG_473:g.82742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1279del
ENST00000353578.9:c.8016del	ENSP00000315873.4:p.Thr2673ArgfsTer5
ENST00000682957.1:c.761del
ENST00000684508.1:n.901del
ENST00000295550.9:c.8634del MANE Select	ENSP00000295550.4:p.Thr2879ArgfsTer5
ENST00000295550.8:c.8634del	ENSP00000295550.4:p.Thr2879ArgfsTer5
ENST00000347401.7:c.6810del	ENSP00000315609.4:p.Thr2271ArgfsTer5
ENST00000353578.8:c.8016del	ENSP00000315873.4:p.Thr2673ArgfsTer5
ENST00000409809.5:c.8016del	ENSP00000386844.1:p.Thr2673ArgfsTer5
ENST00000472056.5:c.6813del	ENSP00000418285.1:p.Thr2272ArgfsTer5
ENST00000491769.1:n.5076del
NM_004369.3:c.8634del , LRG_473t1:c.8634del	NP_004360.2:p.Thr2879ArgfsTer5
NM_057166.4:c.6813del	NP_476507.3:p.Thr2272ArgfsTer5
NM_057167.3:c.8016del	NP_476508.2:p.Thr2673ArgfsTer5
XM_005246065.1:c.8034del	XP_005246122.1:p.Thr2679ArgfsTer5
XM_005246066.1:c.7413del	XP_005246123.1:p.Thr2472ArgfsTer5
XM_006712253.1:c.8133del	XP_006712316.1:p.Thr2712ArgfsTer5
XM_011510574.1:c.8631del	XP_011508876.1:p.Thr2878ArgfsTer5
XM_011510575.1:c.6228del	XP_011508877.1:p.Thr2077ArgfsTer5
XM_017003304.1:c.6228del	XP_016858793.1:p.Thr2077ArgfsTer5
XM_024452684.1:c.7413del	XP_024308452.1:p.Thr2472ArgfsTer5
NM_004369.4:c.8634del MANE Select	NP_004360.2:p.Thr2879ArgfsTer5
NM_057166.5:c.6813del	NP_476507.3:p.Thr2272ArgfsTer5
NM_057167.4:c.8016del	NP_476508.2:p.Thr2673ArgfsTer5