Canonical Allele Identifier: CA2695197704

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2629664
• ClinVar RCV Id: RCV004550569

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366907del , CM000664.2:g.237366907del	GRCh38
NC_000002.11:g.238275550del , CM000664.1:g.238275550del	GRCh37
NC_000002.10:g.237940289del	NCBI36
NG_008676.1:g.52302del , LRG_473:g.52302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4663del	ENSP00000315873.4:p.Asp1555MetfsTer2
ENST00000295550.9:c.5281del MANE Select	ENSP00000295550.4:p.Asp1761MetfsTer2
ENST00000295550.8:c.5281del	ENSP00000295550.4:p.Asp1761MetfsTer2
ENST00000347401.7:c.3460del	ENSP00000315609.4:p.Asp1154MetfsTer2
ENST00000353578.8:c.4663del	ENSP00000315873.4:p.Asp1555MetfsTer2
ENST00000409809.5:c.4663del	ENSP00000386844.1:p.Asp1555MetfsTer2
ENST00000472056.5:c.3460del	ENSP00000418285.1:p.Asp1154MetfsTer2
NM_004369.3:c.5281del , LRG_473t1:c.5281del	NP_004360.2:p.Asp1761MetfsTer2
NM_057166.4:c.3460del	NP_476507.3:p.Asp1154MetfsTer2
NM_057167.3:c.4663del	NP_476508.2:p.Asp1555MetfsTer2
XM_005246065.1:c.4681del	XP_005246122.1:p.Asp1561MetfsTer2
XM_005246066.1:c.4060del	XP_005246123.1:p.Asp1354MetfsTer2
XM_006712253.1:c.4780del	XP_006712316.1:p.Asp1594MetfsTer2
XM_011510574.1:c.5278del	XP_011508876.1:p.Asp1760MetfsTer2
XM_011510575.1:c.2875del	XP_011508877.1:p.Asp959MetfsTer2
XM_017003304.1:c.2875del	XP_016858793.1:p.Asp959MetfsTer2
XM_024452684.1:c.4060del	XP_024308452.1:p.Asp1354MetfsTer2
NM_004369.4:c.5281del MANE Select	NP_004360.2:p.Asp1761MetfsTer2
NM_057166.5:c.3460del	NP_476507.3:p.Asp1154MetfsTer2
NM_057167.4:c.4663del	NP_476508.2:p.Asp1555MetfsTer2