Canonical Allele Identifier: CA2663794444

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237344282-C-CGTGTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344284_237344289dup , CM000664.2:g.237344284_237344289dup	GRCh38
NC_000002.11:g.238252927_238252932dup , CM000664.1:g.238252927_238252932dup	GRCh37
NC_000002.10:g.237917666_237917671dup	NCBI36
NG_008676.1:g.74920_74925dup , LRG_473:g.74920_74925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.313+62_313+67dup
ENST00000353578.9:c.7050+62_7050+67dup	ENSP00000315873.4:n.7050+62_7050+67dup
ENST00000295550.9:c.7668+62_7668+67dup MANE Select	ENSP00000295550.4:n.7668+62_7668+67dup
ENST00000295550.8:c.7668+62_7668+67dup	ENSP00000295550.4:n.7668+62_7668+67dup
ENST00000347401.7:c.5844+62_5844+67dup	ENSP00000315609.4:n.5844+62_5844+67dup
ENST00000353578.8:c.7050+62_7050+67dup	ENSP00000315873.4:n.7050+62_7050+67dup
ENST00000409809.5:c.7050+62_7050+67dup	ENSP00000386844.1:n.7050+62_7050+67dup
ENST00000472056.5:c.5847+62_5847+67dup	ENSP00000418285.1:n.5847+62_5847+67dup
ENST00000491769.1:n.1984_1989dup
NM_004369.3:c.7668+62_7668+67dup , LRG_473t1:c.7668+62_7668+67dup	NP_004360.2:n.7668+62_7668+67dup
NM_057166.4:c.5847+62_5847+67dup	NP_476507.3:n.5847+62_5847+67dup
NM_057167.3:c.7050+62_7050+67dup	NP_476508.2:n.7050+62_7050+67dup
XM_005246065.1:c.7068+62_7068+67dup	XP_005246122.1:n.7068+62_7068+67dup
XM_005246066.1:c.6447+62_6447+67dup	XP_005246123.1:n.6447+62_6447+67dup
XM_006712253.1:c.7167+62_7167+67dup	XP_006712316.1:n.7167+62_7167+67dup
XM_011510574.1:c.7665+62_7665+67dup	XP_011508876.1:n.7665+62_7665+67dup
XM_011510575.1:c.5262+62_5262+67dup	XP_011508877.1:n.5262+62_5262+67dup
XM_017003304.1:c.5262+62_5262+67dup	XP_016858793.1:n.5262+62_5262+67dup
XM_024452684.1:c.6447+62_6447+67dup	XP_024308452.1:n.6447+62_6447+67dup
NM_004369.4:c.7668+62_7668+67dup MANE Select	NP_004360.2:n.7668+62_7668+67dup
NM_057166.5:c.5847+62_5847+67dup	NP_476507.3:n.5847+62_5847+67dup
NM_057167.4:c.7050+62_7050+67dup	NP_476508.2:n.7050+62_7050+67dup