Canonical Allele Identifier: CA1337617510

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359400_237359402delinsGGC , CM000664.2:g.237359400_237359402delinsGGC	GRCh38
NC_000002.11:g.238268043_238268045delinsGGC , CM000664.1:g.238268043_238268045delinsGGC	GRCh37
NC_000002.10:g.237932782_237932784delinsGGC	NCBI36
NG_008676.1:g.59806_59808delinsGCC , LRG_473:g.59806_59808delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5665-14_5665-12delinsGCC	ENSP00000315873.4:n.5665-14_5665-12delinsGCC
ENST00000295550.9:c.6283-14_6283-12delinsGCC MANE Select	ENSP00000295550.4:n.6283-14_6283-12delinsGCC
ENST00000295550.8:c.6283-14_6283-12delinsGCC	ENSP00000295550.4:n.6283-14_6283-12delinsGCC
ENST00000347401.7:c.4462-14_4462-12delinsGCC	ENSP00000315609.4:n.4462-14_4462-12delinsGCC
ENST00000353578.8:c.5665-14_5665-12delinsGCC	ENSP00000315873.4:n.5665-14_5665-12delinsGCC
ENST00000409809.5:c.5665-14_5665-12delinsGCC	ENSP00000386844.1:n.5665-14_5665-12delinsGCC
ENST00000472056.5:c.4462-14_4462-12delinsGCC	ENSP00000418285.1:n.4462-14_4462-12delinsGCC
NM_004369.3:c.6283-14_6283-12delinsGCC , LRG_473t1:c.6283-14_6283-12delinsGCC	NP_004360.2:n.6283-14_6283-12delinsGCC
NM_057166.4:c.4462-14_4462-12delinsGCC	NP_476507.3:n.4462-14_4462-12delinsGCC
NM_057167.3:c.5665-14_5665-12delinsGCC	NP_476508.2:n.5665-14_5665-12delinsGCC
XM_005246065.1:c.5683-14_5683-12delinsGCC	XP_005246122.1:n.5683-14_5683-12delinsGCC
XM_005246066.1:c.5062-14_5062-12delinsGCC	XP_005246123.1:n.5062-14_5062-12delinsGCC
XM_006712253.1:c.5782-14_5782-12delinsGCC	XP_006712316.1:n.5782-14_5782-12delinsGCC
XM_011510574.1:c.6280-14_6280-12delinsGCC	XP_011508876.1:n.6280-14_6280-12delinsGCC
XM_011510575.1:c.3877-14_3877-12delinsGCC	XP_011508877.1:n.3877-14_3877-12delinsGCC
XM_017003304.1:c.3877-14_3877-12delinsGCC	XP_016858793.1:n.3877-14_3877-12delinsGCC
XM_024452684.1:c.5062-14_5062-12delinsGCC	XP_024308452.1:n.5062-14_5062-12delinsGCC
NM_004369.4:c.6283-14_6283-12delinsGCC MANE Select	NP_004360.2:n.6283-14_6283-12delinsGCC
NM_057166.5:c.4462-14_4462-12delinsGCC	NP_476507.3:n.4462-14_4462-12delinsGCC
NM_057167.4:c.5665-14_5665-12delinsGCC	NP_476508.2:n.5665-14_5665-12delinsGCC