Canonical Allele Identifier: CA2663791475

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336592-C-CATA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336594_237336596dup , CM000664.2:g.237336594_237336596dup	GRCh38
NC_000002.11:g.238245237_238245239dup , CM000664.1:g.238245237_238245239dup	GRCh37
NC_000002.10:g.237909976_237909978dup	NCBI36
NG_008676.1:g.82613_82615dup , LRG_473:g.82613_82615dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1213-63_1213-61dup
ENST00000353578.9:c.7950-63_7950-61dup	ENSP00000315873.4:n.7950-63_7950-61dup
ENST00000682957.1:c.695-63_695-61dup
ENST00000684508.1:n.835-63_835-61dup
ENST00000295550.9:c.8568-63_8568-61dup MANE Select	ENSP00000295550.4:n.8568-63_8568-61dup
ENST00000295550.8:c.8568-63_8568-61dup	ENSP00000295550.4:n.8568-63_8568-61dup
ENST00000347401.7:c.6744-63_6744-61dup	ENSP00000315609.4:n.6744-63_6744-61dup
ENST00000353578.8:c.7950-63_7950-61dup	ENSP00000315873.4:n.7950-63_7950-61dup
ENST00000409809.5:c.7950-63_7950-61dup	ENSP00000386844.1:n.7950-63_7950-61dup
ENST00000472056.5:c.6747-63_6747-61dup	ENSP00000418285.1:n.6747-63_6747-61dup
ENST00000491769.1:n.5010-63_5010-61dup
NM_004369.3:c.8568-63_8568-61dup , LRG_473t1:c.8568-63_8568-61dup	NP_004360.2:n.8568-63_8568-61dup
NM_057166.4:c.6747-63_6747-61dup	NP_476507.3:n.6747-63_6747-61dup
NM_057167.3:c.7950-63_7950-61dup	NP_476508.2:n.7950-63_7950-61dup
XM_005246065.1:c.7968-63_7968-61dup	XP_005246122.1:n.7968-63_7968-61dup
XM_005246066.1:c.7347-63_7347-61dup	XP_005246123.1:n.7347-63_7347-61dup
XM_006712253.1:c.8067-63_8067-61dup	XP_006712316.1:n.8067-63_8067-61dup
XM_011510574.1:c.8565-63_8565-61dup	XP_011508876.1:n.8565-63_8565-61dup
XM_011510575.1:c.6162-63_6162-61dup	XP_011508877.1:n.6162-63_6162-61dup
XM_017003304.1:c.6162-63_6162-61dup	XP_016858793.1:n.6162-63_6162-61dup
XM_024452684.1:c.7347-63_7347-61dup	XP_024308452.1:n.7347-63_7347-61dup
NM_004369.4:c.8568-63_8568-61dup MANE Select	NP_004360.2:n.8568-63_8568-61dup
NM_057166.5:c.6747-63_6747-61dup	NP_476507.3:n.6747-63_6747-61dup
NM_057167.4:c.7950-63_7950-61dup	NP_476508.2:n.7950-63_7950-61dup