Canonical Allele Identifier: CA2663794527

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237344421-GCTTGAGCACAGCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344422_237344436del , CM000664.2:g.237344422_237344436del	GRCh38
NC_000002.11:g.238253065_238253079del , CM000664.1:g.238253065_238253079del	GRCh37
NC_000002.10:g.237917804_237917818del	NCBI36
NG_008676.1:g.74772_74786del , LRG_473:g.74772_74786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.227_241del
ENST00000353578.9:c.6964_6978del	ENSP00000315873.4:p.Glu2322_Lys2326del
ENST00000295550.9:c.7582_7596del MANE Select	ENSP00000295550.4:p.Glu2528_Lys2532del
ENST00000295550.8:c.7582_7596del	ENSP00000295550.4:p.Glu2528_Lys2532del
ENST00000347401.7:c.5758_5772del	ENSP00000315609.4:p.Glu1920_Lys1924del
ENST00000353578.8:c.6964_6978del	ENSP00000315873.4:p.Glu2322_Lys2326del
ENST00000409809.5:c.6964_6978del	ENSP00000386844.1:p.Glu2322_Lys2326del
ENST00000472056.5:c.5761_5775del	ENSP00000418285.1:p.Glu1921_Lys1925del
ENST00000491769.1:n.1836_1850del
NM_004369.3:c.7582_7596del , LRG_473t1:c.7582_7596del	NP_004360.2:p.Glu2528_Lys2532del
NM_057166.4:c.5761_5775del	NP_476507.3:p.Glu1921_Lys1925del
NM_057167.3:c.6964_6978del	NP_476508.2:p.Glu2322_Lys2326del
XM_005246065.1:c.6982_6996del	XP_005246122.1:p.Glu2328_Lys2332del
XM_005246066.1:c.6361_6375del	XP_005246123.1:p.Glu2121_Lys2125del
XM_006712253.1:c.7081_7095del	XP_006712316.1:p.Glu2361_Lys2365del
XM_011510574.1:c.7579_7593del	XP_011508876.1:p.Glu2527_Lys2531del
XM_011510575.1:c.5176_5190del	XP_011508877.1:p.Glu1726_Lys1730del
XM_017003304.1:c.5176_5190del	XP_016858793.1:p.Glu1726_Lys1730del
XM_024452684.1:c.6361_6375del	XP_024308452.1:p.Glu2121_Lys2125del
NM_004369.4:c.7582_7596del MANE Select	NP_004360.2:p.Glu2528_Lys2532del
NM_057166.5:c.5761_5775del	NP_476507.3:p.Glu1921_Lys1925del
NM_057167.4:c.6964_6978del	NP_476508.2:p.Glu2322_Lys2326del