Canonical Allele Identifier: CA2754786762
Gene: COL6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237336449_237336450insGTGTGT , CM000664.2:g.237336449_237336450insGTGTGT GRCh38
NC_000002.11:g.238245092_238245093insGTGTGT , CM000664.1:g.238245092_238245093insGTGTGT GRCh37
NC_000002.10:g.237909831_237909832insGTGTGT NCBI36
NG_008676.1:g.82758_82759insACACAC , LRG_473:g.82758_82759insACACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1295_1296insACACAC
ENST00000353578.9:c.8032_8033insACACAC ENSP00000315873.4:p.Thr2678delinsAsnThrPro
ENST00000682957.1:c.777_778insACACAC
ENST00000684508.1:n.917_918insACACAC
ENST00000295550.9:c.8650_8651insACACAC MANE Select ENSP00000295550.4:p.Thr2884delinsAsnThrPro
ENST00000295550.8:c.8650_8651insACACAC ENSP00000295550.4:p.Thr2884delinsAsnThrPro
ENST00000347401.7:c.6826_6827insACACAC ENSP00000315609.4:p.Thr2276delinsAsnThrPro
ENST00000353578.8:c.8032_8033insACACAC ENSP00000315873.4:p.Thr2678delinsAsnThrPro
ENST00000409809.5:c.8032_8033insACACAC ENSP00000386844.1:p.Thr2678delinsAsnThrPro
ENST00000472056.5:c.6829_6830insACACAC ENSP00000418285.1:p.Thr2277delinsAsnThrPro
ENST00000491769.1:n.5092_5093insACACAC
NM_004369.3:c.8650_8651insACACAC , LRG_473t1:c.8650_8651insACACAC NP_004360.2:p.Thr2884delinsAsnThrPro
NM_057166.4:c.6829_6830insACACAC NP_476507.3:p.Thr2277delinsAsnThrPro
NM_057167.3:c.8032_8033insACACAC NP_476508.2:p.Thr2678delinsAsnThrPro
XM_005246065.1:c.8050_8051insACACAC XP_005246122.1:p.Thr2684delinsAsnThrPro
XM_005246066.1:c.7429_7430insACACAC XP_005246123.1:p.Thr2477delinsAsnThrPro
XM_006712253.1:c.8149_8150insACACAC XP_006712316.1:p.Thr2717delinsAsnThrPro
XM_011510574.1:c.8647_8648insACACAC XP_011508876.1:p.Thr2883delinsAsnThrPro
XM_011510575.1:c.6244_6245insACACAC XP_011508877.1:p.Thr2082delinsAsnThrPro
XM_017003304.1:c.6244_6245insACACAC XP_016858793.1:p.Thr2082delinsAsnThrPro
XM_024452684.1:c.7429_7430insACACAC XP_024308452.1:p.Thr2477delinsAsnThrPro
NM_004369.4:c.8650_8651insACACAC MANE Select NP_004360.2:p.Thr2884delinsAsnThrPro
NM_057166.5:c.6829_6830insACACAC NP_476507.3:p.Thr2277delinsAsnThrPro
NM_057167.4:c.8032_8033insACACAC NP_476508.2:p.Thr2678delinsAsnThrPro