Canonical Allele Identifier: CA1337607291

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336585_237336586delinsAT , CM000664.2:g.237336585_237336586delinsAT	GRCh38
NC_000002.11:g.238245228_238245229delinsAT , CM000664.1:g.238245228_238245229delinsAT	GRCh37
NC_000002.10:g.237909967_237909968delinsAT	NCBI36
NG_008676.1:g.82622_82623delinsAT , LRG_473:g.82622_82623delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1213-54_1213-53delinsAT
ENST00000353578.9:c.7950-54_7950-53delinsAT	ENSP00000315873.4:n.7950-54_7950-53delinsAT
ENST00000682957.1:c.695-54_695-53delinsAT
ENST00000684508.1:n.835-54_835-53delinsAT
ENST00000295550.9:c.8568-54_8568-53delinsAT MANE Select	ENSP00000295550.4:n.8568-54_8568-53delinsAT
ENST00000295550.8:c.8568-54_8568-53delinsAT	ENSP00000295550.4:n.8568-54_8568-53delinsAT
ENST00000347401.7:c.6744-54_6744-53delinsAT	ENSP00000315609.4:n.6744-54_6744-53delinsAT
ENST00000353578.8:c.7950-54_7950-53delinsAT	ENSP00000315873.4:n.7950-54_7950-53delinsAT
ENST00000409809.5:c.7950-54_7950-53delinsAT	ENSP00000386844.1:n.7950-54_7950-53delinsAT
ENST00000472056.5:c.6747-54_6747-53delinsAT	ENSP00000418285.1:n.6747-54_6747-53delinsAT
ENST00000491769.1:n.5010-54_5010-53delinsAT
NM_004369.3:c.8568-54_8568-53delinsAT , LRG_473t1:c.8568-54_8568-53delinsAT	NP_004360.2:n.8568-54_8568-53delinsAT
NM_057166.4:c.6747-54_6747-53delinsAT	NP_476507.3:n.6747-54_6747-53delinsAT
NM_057167.3:c.7950-54_7950-53delinsAT	NP_476508.2:n.7950-54_7950-53delinsAT
XM_005246065.1:c.7968-54_7968-53delinsAT	XP_005246122.1:n.7968-54_7968-53delinsAT
XM_005246066.1:c.7347-54_7347-53delinsAT	XP_005246123.1:n.7347-54_7347-53delinsAT
XM_006712253.1:c.8067-54_8067-53delinsAT	XP_006712316.1:n.8067-54_8067-53delinsAT
XM_011510574.1:c.8565-54_8565-53delinsAT	XP_011508876.1:n.8565-54_8565-53delinsAT
XM_011510575.1:c.6162-54_6162-53delinsAT	XP_011508877.1:n.6162-54_6162-53delinsAT
XM_017003304.1:c.6162-54_6162-53delinsAT	XP_016858793.1:n.6162-54_6162-53delinsAT
XM_024452684.1:c.7347-54_7347-53delinsAT	XP_024308452.1:n.7347-54_7347-53delinsAT
NM_004369.4:c.8568-54_8568-53delinsAT MANE Select	NP_004360.2:n.8568-54_8568-53delinsAT
NM_057166.5:c.6747-54_6747-53delinsAT	NP_476507.3:n.6747-54_6747-53delinsAT
NM_057167.4:c.7950-54_7950-53delinsAT	NP_476508.2:n.7950-54_7950-53delinsAT