Canonical Allele Identifier: CA2754786760

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336445_237336446insTTGGGT , CM000664.2:g.237336445_237336446insTTGGGT	GRCh38
NC_000002.11:g.238245088_238245089insTTGGGT , CM000664.1:g.238245088_238245089insTTGGGT	GRCh37
NC_000002.10:g.237909827_237909828insTTGGGT	NCBI36
NG_008676.1:g.82762_82763insACCCAA , LRG_473:g.82762_82763insACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1299_1300insACCCAA
ENST00000353578.9:c.8036_8037insACCCAA	ENSP00000315873.4:p.Thr2679_Thr2680insProAsn
ENST00000682957.1:c.781_782insACCCAA
ENST00000684508.1:n.921_922insACCCAA
ENST00000295550.9:c.8654_8655insACCCAA MANE Select	ENSP00000295550.4:p.Thr2885_Thr2886insProAsn
ENST00000295550.8:c.8654_8655insACCCAA	ENSP00000295550.4:p.Thr2885_Thr2886insProAsn
ENST00000347401.7:c.6830_6831insACCCAA	ENSP00000315609.4:p.Thr2277_Thr2278insProAsn
ENST00000353578.8:c.8036_8037insACCCAA	ENSP00000315873.4:p.Thr2679_Thr2680insProAsn
ENST00000409809.5:c.8036_8037insACCCAA	ENSP00000386844.1:p.Thr2679_Thr2680insProAsn
ENST00000472056.5:c.6833_6834insACCCAA	ENSP00000418285.1:p.Thr2278_Thr2279insProAsn
ENST00000491769.1:n.5096_5097insACCCAA
NM_004369.3:c.8654_8655insACCCAA , LRG_473t1:c.8654_8655insACCCAA	NP_004360.2:p.Thr2885_Thr2886insProAsn
NM_057166.4:c.6833_6834insACCCAA	NP_476507.3:p.Thr2278_Thr2279insProAsn
NM_057167.3:c.8036_8037insACCCAA	NP_476508.2:p.Thr2679_Thr2680insProAsn
XM_005246065.1:c.8054_8055insACCCAA	XP_005246122.1:p.Thr2685_Thr2686insProAsn
XM_005246066.1:c.7433_7434insACCCAA	XP_005246123.1:p.Thr2478_Thr2479insProAsn
XM_006712253.1:c.8153_8154insACCCAA	XP_006712316.1:p.Thr2718_Thr2719insProAsn
XM_011510574.1:c.8651_8652insACCCAA	XP_011508876.1:p.Thr2884_Thr2885insProAsn
XM_011510575.1:c.6248_6249insACCCAA	XP_011508877.1:p.Thr2083_Thr2084insProAsn
XM_017003304.1:c.6248_6249insACCCAA	XP_016858793.1:p.Thr2083_Thr2084insProAsn
XM_024452684.1:c.7433_7434insACCCAA	XP_024308452.1:p.Thr2478_Thr2479insProAsn
NM_004369.4:c.8654_8655insACCCAA MANE Select	NP_004360.2:p.Thr2885_Thr2886insProAsn
NM_057166.5:c.6833_6834insACCCAA	NP_476507.3:p.Thr2278_Thr2279insProAsn
NM_057167.4:c.8036_8037insACCCAA	NP_476508.2:p.Thr2679_Thr2680insProAsn