Canonical Allele Identifier: CA645514273

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2821992
• ClinVar RCV Id: RCV003631771
• COSMIC: COSM3729899

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366881del , CM000664.2:g.237366881del	GRCh38
NC_000002.11:g.238275524del , CM000664.1:g.238275524del	GRCh37
NC_000002.10:g.237940263del	NCBI36
NG_008676.1:g.52332del , LRG_473:g.52332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4693del	ENSP00000315873.4:p.Val1565SerfsTer8
ENST00000295550.9:c.5311del MANE Select	ENSP00000295550.4:p.Val1771SerfsTer8
ENST00000295550.8:c.5311del	ENSP00000295550.4:p.Val1771SerfsTer8
ENST00000347401.7:c.3490del	ENSP00000315609.4:p.Val1164SerfsTer8
ENST00000353578.8:c.4693del	ENSP00000315873.4:p.Val1565SerfsTer8
ENST00000409809.5:c.4693del	ENSP00000386844.1:p.Val1565SerfsTer8
ENST00000472056.5:c.3490del	ENSP00000418285.1:p.Val1164SerfsTer8
NM_004369.3:c.5311del , LRG_473t1:c.5311del	NP_004360.2:p.Val1771SerfsTer8
NM_057166.4:c.3490del	NP_476507.3:p.Val1164SerfsTer8
NM_057167.3:c.4693del	NP_476508.2:p.Val1565SerfsTer8
XM_005246065.1:c.4711del	XP_005246122.1:p.Val1571SerfsTer8
XM_005246066.1:c.4090del	XP_005246123.1:p.Val1364SerfsTer8
XM_006712253.1:c.4810del	XP_006712316.1:p.Val1604SerfsTer8
XM_011510574.1:c.5308del	XP_011508876.1:p.Val1770SerfsTer8
XM_011510575.1:c.2905del	XP_011508877.1:p.Val969SerfsTer8
XM_017003304.1:c.2905del	XP_016858793.1:p.Val969SerfsTer8
XM_024452684.1:c.4090del	XP_024308452.1:p.Val1364SerfsTer8
NM_004369.4:c.5311del MANE Select	NP_004360.2:p.Val1771SerfsTer8
NM_057166.5:c.3490del	NP_476507.3:p.Val1164SerfsTer8
NM_057167.4:c.4693del	NP_476508.2:p.Val1565SerfsTer8