Canonical Allele Identifier: CA1043806476

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1989571
• ClinVar RCV Id: RCV002786576
• dbSNP Id: rs746284792
• gnomAD v3: 2-237336409-C-CACAGGCTTTGTTGTGGTGGTT
• gnomAD v4: 2-237336409-C-CACAGGCTTTGTTGTGGTGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336430_237336450dup , CM000664.2:g.237336430_237336450dup	GRCh38
NC_000002.11:g.238245073_238245093dup , CM000664.1:g.238245073_238245093dup	GRCh37
NC_000002.10:g.237909812_237909832dup	NCBI36
NG_008676.1:g.82778_82798dup , LRG_473:g.82778_82798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1315_1335dup
ENST00000353578.9:c.8052_8072dup	ENSP00000315873.4:p.Val2691_Thr2692insThrThrThrThrLysProVal
ENST00000682957.1:c.797_817dup
ENST00000684508.1:n.937_957dup
ENST00000295550.9:c.8670_8690dup MANE Select	ENSP00000295550.4:p.Val2897_Thr2898insThrThrThrThrLysProVal
ENST00000295550.8:c.8670_8690dup	ENSP00000295550.4:p.Val2897_Thr2898insThrThrThrThrLysProVal
ENST00000347401.7:c.6846_6866dup	ENSP00000315609.4:p.Val2289_Thr2290insThrThrThrThrLysProVal
ENST00000353578.8:c.8052_8072dup	ENSP00000315873.4:p.Val2691_Thr2692insThrThrThrThrLysProVal
ENST00000409809.5:c.8052_8072dup	ENSP00000386844.1:p.Val2691_Thr2692insThrThrThrThrLysProVal
ENST00000472056.5:c.6849_6869dup	ENSP00000418285.1:p.Val2290_Thr2291insThrThrThrThrLysProVal
ENST00000491769.1:n.5112_5132dup
NM_004369.3:c.8670_8690dup , LRG_473t1:c.8670_8690dup	NP_004360.2:p.Val2897_Thr2898insThrThrThrThrLysProVal
NM_057166.4:c.6849_6869dup	NP_476507.3:p.Val2290_Thr2291insThrThrThrThrLysProVal
NM_057167.3:c.8052_8072dup	NP_476508.2:p.Val2691_Thr2692insThrThrThrThrLysProVal
XM_005246065.1:c.8070_8090dup	XP_005246122.1:p.Val2697_Thr2698insThrThrThrThrLysProVal
XM_005246066.1:c.7449_7469dup	XP_005246123.1:p.Val2490_Thr2491insThrThrThrThrLysProVal
XM_006712253.1:c.8169_8189dup	XP_006712316.1:p.Val2730_Thr2731insThrThrThrThrLysProVal
XM_011510574.1:c.8667_8687dup	XP_011508876.1:p.Val2896_Thr2897insThrThrThrThrLysProVal
XM_011510575.1:c.6264_6284dup	XP_011508877.1:p.Val2095_Thr2096insThrThrThrThrLysProVal
XM_017003304.1:c.6264_6284dup	XP_016858793.1:p.Val2095_Thr2096insThrThrThrThrLysProVal
XM_024452684.1:c.7449_7469dup	XP_024308452.1:p.Val2490_Thr2491insThrThrThrThrLysProVal
NM_004369.4:c.8670_8690dup MANE Select	NP_004360.2:p.Val2897_Thr2898insThrThrThrThrLysProVal
NM_057166.5:c.6849_6869dup	NP_476507.3:p.Val2290_Thr2291insThrThrThrThrLysProVal
NM_057167.4:c.8052_8072dup	NP_476508.2:p.Val2691_Thr2692insThrThrThrThrLysProVal