Canonical Allele Identifier: CA1337607194

Gene: COL6A3

Linked Data

• dbSNP Id: rs1700551154

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336433_237336453dup , CM000664.2:g.237336433_237336453dup	GRCh38
NC_000002.11:g.238245076_238245096dup , CM000664.1:g.238245076_238245096dup	GRCh37
NC_000002.10:g.237909815_237909835dup	NCBI36
NG_008676.1:g.82757_82777dup , LRG_473:g.82757_82777dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1294_1314dup
ENST00000353578.9:c.8031_8051dup	ENSP00000315873.4:p.Val2684_Thr2685insThrThrThrThrLysProVal
ENST00000682957.1:c.776_796dup
ENST00000684508.1:n.916_936dup
ENST00000295550.9:c.8649_8669dup MANE Select	ENSP00000295550.4:p.Val2890_Thr2891insThrThrThrThrLysProVal
ENST00000295550.8:c.8649_8669dup	ENSP00000295550.4:p.Val2890_Thr2891insThrThrThrThrLysProVal
ENST00000347401.7:c.6825_6845dup	ENSP00000315609.4:p.Val2282_Thr2283insThrThrThrThrLysProVal
ENST00000353578.8:c.8031_8051dup	ENSP00000315873.4:p.Val2684_Thr2685insThrThrThrThrLysProVal
ENST00000409809.5:c.8031_8051dup	ENSP00000386844.1:p.Val2684_Thr2685insThrThrThrThrLysProVal
ENST00000472056.5:c.6828_6848dup	ENSP00000418285.1:p.Val2283_Thr2284insThrThrThrThrLysProVal
ENST00000491769.1:n.5091_5111dup
NM_004369.3:c.8649_8669dup , LRG_473t1:c.8649_8669dup	NP_004360.2:p.Val2890_Thr2891insThrThrThrThrLysProVal
NM_057166.4:c.6828_6848dup	NP_476507.3:p.Val2283_Thr2284insThrThrThrThrLysProVal
NM_057167.3:c.8031_8051dup	NP_476508.2:p.Val2684_Thr2685insThrThrThrThrLysProVal
XM_005246065.1:c.8049_8069dup	XP_005246122.1:p.Val2690_Thr2691insThrThrThrThrLysProVal
XM_005246066.1:c.7428_7448dup	XP_005246123.1:p.Val2483_Thr2484insThrThrThrThrLysProVal
XM_006712253.1:c.8148_8168dup	XP_006712316.1:p.Val2723_Thr2724insThrThrThrThrLysProVal
XM_011510574.1:c.8646_8666dup	XP_011508876.1:p.Val2889_Thr2890insThrThrThrThrLysProVal
XM_011510575.1:c.6243_6263dup	XP_011508877.1:p.Val2088_Thr2089insThrThrThrThrLysProVal
XM_017003304.1:c.6243_6263dup	XP_016858793.1:p.Val2088_Thr2089insThrThrThrThrLysProVal
XM_024452684.1:c.7428_7448dup	XP_024308452.1:p.Val2483_Thr2484insThrThrThrThrLysProVal
NM_004369.4:c.8649_8669dup MANE Select	NP_004360.2:p.Val2890_Thr2891insThrThrThrThrLysProVal
NM_057166.5:c.6828_6848dup	NP_476507.3:p.Val2283_Thr2284insThrThrThrThrLysProVal
NM_057167.4:c.8031_8051dup	NP_476508.2:p.Val2684_Thr2685insThrThrThrThrLysProVal