Canonical Allele Identifier: CA2754786752

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336427_237336428insT , CM000664.2:g.237336427_237336428insT	GRCh38
NC_000002.11:g.238245070_238245071insT , CM000664.1:g.238245070_238245071insT	GRCh37
NC_000002.10:g.237909809_237909810insT	NCBI36
NG_008676.1:g.82780_82781insA , LRG_473:g.82780_82781insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1317_1318insA
ENST00000353578.9:c.8054_8055insA	ENSP00000315873.4:p.Thr2686HisfsTer?
ENST00000682957.1:c.799_800insA
ENST00000684508.1:n.939_940insA
ENST00000295550.9:c.8672_8673insA MANE Select	ENSP00000295550.4:p.Thr2892HisfsTer?
ENST00000295550.8:c.8672_8673insA	ENSP00000295550.4:p.Thr2892HisfsTer?
ENST00000347401.7:c.6848_6849insA	ENSP00000315609.4:p.Thr2284HisfsTer?
ENST00000353578.8:c.8054_8055insA	ENSP00000315873.4:p.Thr2686HisfsTer?
ENST00000409809.5:c.8054_8055insA	ENSP00000386844.1:p.Thr2686HisfsTer?
ENST00000472056.5:c.6851_6852insA	ENSP00000418285.1:p.Thr2285HisfsTer?
ENST00000491769.1:n.5114_5115insA
NM_004369.3:c.8672_8673insA , LRG_473t1:c.8672_8673insA	NP_004360.2:p.Thr2892HisfsTer?
NM_057166.4:c.6851_6852insA	NP_476507.3:p.Thr2285HisfsTer?
NM_057167.3:c.8054_8055insA	NP_476508.2:p.Thr2686HisfsTer?
XM_005246065.1:c.8072_8073insA	XP_005246122.1:p.Thr2692HisfsTer?
XM_005246066.1:c.7451_7452insA	XP_005246123.1:p.Thr2485HisfsTer?
XM_006712253.1:c.8171_8172insA	XP_006712316.1:p.Thr2725HisfsTer?
XM_011510574.1:c.8669_8670insA	XP_011508876.1:p.Thr2891HisfsTer?
XM_011510575.1:c.6266_6267insA	XP_011508877.1:p.Thr2090HisfsTer?
XM_017003304.1:c.6266_6267insA	XP_016858793.1:p.Thr2090HisfsTer?
XM_024452684.1:c.7451_7452insA	XP_024308452.1:p.Thr2485HisfsTer?
NM_004369.4:c.8672_8673insA MANE Select	NP_004360.2:p.Thr2892HisfsTer?
NM_057166.5:c.6851_6852insA	NP_476507.3:p.Thr2285HisfsTer?
NM_057167.4:c.8054_8055insA	NP_476508.2:p.Thr2686HisfsTer?