Canonical Allele Identifier: CA2663794142

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237344101-CGGCAAGAGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344103_237344112del , CM000664.2:g.237344103_237344112del	GRCh38
NC_000002.11:g.238252746_238252755del , CM000664.1:g.238252746_238252755del	GRCh37
NC_000002.10:g.237917485_237917494del	NCBI36
NG_008676.1:g.75097_75106del , LRG_473:g.75097_75106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.313+239_313+248del
ENST00000353578.9:c.7050+239_7050+248del	ENSP00000315873.4:n.7050+239_7050+248del
ENST00000295550.9:c.7668+239_7668+248del MANE Select	ENSP00000295550.4:n.7668+239_7668+248del
ENST00000295550.8:c.7668+239_7668+248del	ENSP00000295550.4:n.7668+239_7668+248del
ENST00000347401.7:c.5844+239_5844+248del	ENSP00000315609.4:n.5844+239_5844+248del
ENST00000353578.8:c.7050+239_7050+248del	ENSP00000315873.4:n.7050+239_7050+248del
ENST00000409809.5:c.7050+239_7050+248del	ENSP00000386844.1:n.7050+239_7050+248del
ENST00000472056.5:c.5847+239_5847+248del	ENSP00000418285.1:n.5847+239_5847+248del
ENST00000491769.1:n.2161_2170del
NM_004369.3:c.7668+239_7668+248del , LRG_473t1:c.7668+239_7668+248del	NP_004360.2:n.7668+239_7668+248del
NM_057166.4:c.5847+239_5847+248del	NP_476507.3:n.5847+239_5847+248del
NM_057167.3:c.7050+239_7050+248del	NP_476508.2:n.7050+239_7050+248del
XM_005246065.1:c.7068+239_7068+248del	XP_005246122.1:n.7068+239_7068+248del
XM_005246066.1:c.6447+239_6447+248del	XP_005246123.1:n.6447+239_6447+248del
XM_006712253.1:c.7167+239_7167+248del	XP_006712316.1:n.7167+239_7167+248del
XM_011510574.1:c.7665+239_7665+248del	XP_011508876.1:n.7665+239_7665+248del
XM_011510575.1:c.5262+239_5262+248del	XP_011508877.1:n.5262+239_5262+248del
XM_017003304.1:c.5262+239_5262+248del	XP_016858793.1:n.5262+239_5262+248del
XM_024452684.1:c.6447+239_6447+248del	XP_024308452.1:n.6447+239_6447+248del
NM_004369.4:c.7668+239_7668+248del MANE Select	NP_004360.2:n.7668+239_7668+248del
NM_057166.5:c.5847+239_5847+248del	NP_476507.3:n.5847+239_5847+248del
NM_057167.4:c.7050+239_7050+248del	NP_476508.2:n.7050+239_7050+248del