Canonical Allele Identifier: CA2187522

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237339131dup , CM000664.2:g.237339131dup	GRCh38
NC_000002.11:g.238247774dup , CM000664.1:g.238247774dup	GRCh37
NC_000002.10:g.237912513dup	NCBI36
NG_008676.1:g.80084dup , LRG_473:g.80084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1110-7dup
ENST00000353578.9:c.7847-7dup	ENSP00000315873.4:n.7847-7dup
ENST00000682957.1:c.468-7dup
ENST00000684508.1:n.732-7dup
ENST00000295550.9:c.8465-7dup MANE Select	ENSP00000295550.4:n.8465-7dup
ENST00000295550.8:c.8465-7dup	ENSP00000295550.4:n.8465-7dup
ENST00000347401.7:c.6641-7dup	ENSP00000315609.4:n.6641-7dup
ENST00000353578.8:c.7847-7dup	ENSP00000315873.4:n.7847-7dup
ENST00000409809.5:c.7847-7dup	ENSP00000386844.1:n.7847-7dup
ENST00000468792.1:n.152-7dup
ENST00000472056.5:c.6644-7dup	ENSP00000418285.1:n.6644-7dup
ENST00000491769.1:n.4907-7dup
NM_004369.3:c.8465-7dup , LRG_473t1:c.8465-7dup	NP_004360.2:n.8465-7dup
NM_057166.4:c.6644-7dup	NP_476507.3:n.6644-7dup
NM_057167.3:c.7847-7dup	NP_476508.2:n.7847-7dup
XM_005246065.1:c.7865-7dup	XP_005246122.1:n.7865-7dup
XM_005246066.1:c.7244-7dup	XP_005246123.1:n.7244-7dup
XM_006712253.1:c.7964-7dup	XP_006712316.1:n.7964-7dup
XM_011510574.1:c.8462-7dup	XP_011508876.1:n.8462-7dup
XM_011510575.1:c.6059-7dup	XP_011508877.1:n.6059-7dup
XM_017003304.1:c.6059-7dup	XP_016858793.1:n.6059-7dup
XM_024452684.1:c.7244-7dup	XP_024308452.1:n.7244-7dup
NM_004369.4:c.8465-7dup MANE Select	NP_004360.2:n.8465-7dup
NM_057166.5:c.6644-7dup	NP_476507.3:n.6644-7dup
NM_057167.4:c.7847-7dup	NP_476508.2:n.7847-7dup