Canonical Allele Identifier: CA766629230

Gene: COL6A3

Linked Data

• dbSNP Id: rs1405571541
• gnomAD v3: 2-237344176-A-AGCC
• gnomAD v4: 2-237344176-A-AGCC
• MyVariant Identifiers: chr2:g.238252819_238252820insGCC (hg19) ; chr2:g.237344176_237344177insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344177_237344179dup , CM000664.2:g.237344177_237344179dup	GRCh38
NC_000002.11:g.238252820_238252822dup , CM000664.1:g.238252820_238252822dup	GRCh37
NC_000002.10:g.237917559_237917561dup	NCBI36
NG_008676.1:g.75029_75031dup , LRG_473:g.75029_75031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.313+171_313+173dup
ENST00000353578.9:c.7050+171_7050+173dup	ENSP00000315873.4:n.7050+171_7050+173dup
ENST00000295550.9:c.7668+171_7668+173dup MANE Select	ENSP00000295550.4:n.7668+171_7668+173dup
ENST00000295550.8:c.7668+171_7668+173dup	ENSP00000295550.4:n.7668+171_7668+173dup
ENST00000347401.7:c.5844+171_5844+173dup	ENSP00000315609.4:n.5844+171_5844+173dup
ENST00000353578.8:c.7050+171_7050+173dup	ENSP00000315873.4:n.7050+171_7050+173dup
ENST00000409809.5:c.7050+171_7050+173dup	ENSP00000386844.1:n.7050+171_7050+173dup
ENST00000472056.5:c.5847+171_5847+173dup	ENSP00000418285.1:n.5847+171_5847+173dup
ENST00000491769.1:n.2093_2095dup
NM_004369.3:c.7668+171_7668+173dup , LRG_473t1:c.7668+171_7668+173dup	NP_004360.2:n.7668+171_7668+173dup
NM_057166.4:c.5847+171_5847+173dup	NP_476507.3:n.5847+171_5847+173dup
NM_057167.3:c.7050+171_7050+173dup	NP_476508.2:n.7050+171_7050+173dup
XM_005246065.1:c.7068+171_7068+173dup	XP_005246122.1:n.7068+171_7068+173dup
XM_005246066.1:c.6447+171_6447+173dup	XP_005246123.1:n.6447+171_6447+173dup
XM_006712253.1:c.7167+171_7167+173dup	XP_006712316.1:n.7167+171_7167+173dup
XM_011510574.1:c.7665+171_7665+173dup	XP_011508876.1:n.7665+171_7665+173dup
XM_011510575.1:c.5262+171_5262+173dup	XP_011508877.1:n.5262+171_5262+173dup
XM_017003304.1:c.5262+171_5262+173dup	XP_016858793.1:n.5262+171_5262+173dup
XM_024452684.1:c.6447+171_6447+173dup	XP_024308452.1:n.6447+171_6447+173dup
NM_004369.4:c.7668+171_7668+173dup MANE Select	NP_004360.2:n.7668+171_7668+173dup
NM_057166.5:c.5847+171_5847+173dup	NP_476507.3:n.5847+171_5847+173dup
NM_057167.4:c.7050+171_7050+173dup	NP_476508.2:n.7050+171_7050+173dup