Canonical Allele Identifier: CA2754786777

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336587_237336588insCCAAACACACCC , CM000664.2:g.237336587_237336588insCCAAACACACCC	GRCh38
NC_000002.11:g.238245230_238245231insCCAAACACACCC , CM000664.1:g.238245230_238245231insCCAAACACACCC	GRCh37
NC_000002.10:g.237909969_237909970insCCAAACACACCC	NCBI36
NG_008676.1:g.82620_82621insGGGTGTGTTTGG , LRG_473:g.82620_82621insGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1213-56_1213-55insGGGTGTGTTTGG
ENST00000353578.9:c.7950-56_7950-55insGGGTGTGTTTGG	ENSP00000315873.4:n.7950-56_7950-55insGGGTGTGTTTGG
ENST00000682957.1:c.695-56_695-55insGGGTGTGTTTGG
ENST00000684508.1:n.835-56_835-55insGGGTGTGTTTGG
ENST00000295550.9:c.8568-56_8568-55insGGGTGTGTTTGG MANE Select	ENSP00000295550.4:n.8568-56_8568-55insGGGTGTGTTTGG
ENST00000295550.8:c.8568-56_8568-55insGGGTGTGTTTGG	ENSP00000295550.4:n.8568-56_8568-55insGGGTGTGTTTGG
ENST00000347401.7:c.6744-56_6744-55insGGGTGTGTTTGG	ENSP00000315609.4:n.6744-56_6744-55insGGGTGTGTTTGG
ENST00000353578.8:c.7950-56_7950-55insGGGTGTGTTTGG	ENSP00000315873.4:n.7950-56_7950-55insGGGTGTGTTTGG
ENST00000409809.5:c.7950-56_7950-55insGGGTGTGTTTGG	ENSP00000386844.1:n.7950-56_7950-55insGGGTGTGTTTGG
ENST00000472056.5:c.6747-56_6747-55insGGGTGTGTTTGG	ENSP00000418285.1:n.6747-56_6747-55insGGGTGTGTTTGG
ENST00000491769.1:n.5010-56_5010-55insGGGTGTGTTTGG
NM_004369.3:c.8568-56_8568-55insGGGTGTGTTTGG , LRG_473t1:c.8568-56_8568-55insGGGTGTGTTTGG	NP_004360.2:n.8568-56_8568-55insGGGTGTGTTTGG
NM_057166.4:c.6747-56_6747-55insGGGTGTGTTTGG	NP_476507.3:n.6747-56_6747-55insGGGTGTGTTTGG
NM_057167.3:c.7950-56_7950-55insGGGTGTGTTTGG	NP_476508.2:n.7950-56_7950-55insGGGTGTGTTTGG
XM_005246065.1:c.7968-56_7968-55insGGGTGTGTTTGG	XP_005246122.1:n.7968-56_7968-55insGGGTGTGTTTGG
XM_005246066.1:c.7347-56_7347-55insGGGTGTGTTTGG	XP_005246123.1:n.7347-56_7347-55insGGGTGTGTTTGG
XM_006712253.1:c.8067-56_8067-55insGGGTGTGTTTGG	XP_006712316.1:n.8067-56_8067-55insGGGTGTGTTTGG
XM_011510574.1:c.8565-56_8565-55insGGGTGTGTTTGG	XP_011508876.1:n.8565-56_8565-55insGGGTGTGTTTGG
XM_011510575.1:c.6162-56_6162-55insGGGTGTGTTTGG	XP_011508877.1:n.6162-56_6162-55insGGGTGTGTTTGG
XM_017003304.1:c.6162-56_6162-55insGGGTGTGTTTGG	XP_016858793.1:n.6162-56_6162-55insGGGTGTGTTTGG
XM_024452684.1:c.7347-56_7347-55insGGGTGTGTTTGG	XP_024308452.1:n.7347-56_7347-55insGGGTGTGTTTGG
NM_004369.4:c.8568-56_8568-55insGGGTGTGTTTGG MANE Select	NP_004360.2:n.8568-56_8568-55insGGGTGTGTTTGG
NM_057166.5:c.6747-56_6747-55insGGGTGTGTTTGG	NP_476507.3:n.6747-56_6747-55insGGGTGTGTTTGG
NM_057167.4:c.7950-56_7950-55insGGGTGTGTTTGG	NP_476508.2:n.7950-56_7950-55insGGGTGTGTTTGG