Canonical Allele Identifier: CA2754786754

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336428_237336429insGTGTGT , CM000664.2:g.237336428_237336429insGTGTGT	GRCh38
NC_000002.11:g.238245071_238245072insGTGTGT , CM000664.1:g.238245071_238245072insGTGTGT	GRCh37
NC_000002.10:g.237909810_237909811insGTGTGT	NCBI36
NG_008676.1:g.82779_82780insACACAC , LRG_473:g.82779_82780insACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1316_1317insACACAC
ENST00000353578.9:c.8053_8054insACACAC	ENSP00000315873.4:p.Thr2685delinsAsnThrPro
ENST00000682957.1:c.798_799insACACAC
ENST00000684508.1:n.938_939insACACAC
ENST00000295550.9:c.8671_8672insACACAC MANE Select	ENSP00000295550.4:p.Thr2891delinsAsnThrPro
ENST00000295550.8:c.8671_8672insACACAC	ENSP00000295550.4:p.Thr2891delinsAsnThrPro
ENST00000347401.7:c.6847_6848insACACAC	ENSP00000315609.4:p.Thr2283delinsAsnThrPro
ENST00000353578.8:c.8053_8054insACACAC	ENSP00000315873.4:p.Thr2685delinsAsnThrPro
ENST00000409809.5:c.8053_8054insACACAC	ENSP00000386844.1:p.Thr2685delinsAsnThrPro
ENST00000472056.5:c.6850_6851insACACAC	ENSP00000418285.1:p.Thr2284delinsAsnThrPro
ENST00000491769.1:n.5113_5114insACACAC
NM_004369.3:c.8671_8672insACACAC , LRG_473t1:c.8671_8672insACACAC	NP_004360.2:p.Thr2891delinsAsnThrPro
NM_057166.4:c.6850_6851insACACAC	NP_476507.3:p.Thr2284delinsAsnThrPro
NM_057167.3:c.8053_8054insACACAC	NP_476508.2:p.Thr2685delinsAsnThrPro
XM_005246065.1:c.8071_8072insACACAC	XP_005246122.1:p.Thr2691delinsAsnThrPro
XM_005246066.1:c.7450_7451insACACAC	XP_005246123.1:p.Thr2484delinsAsnThrPro
XM_006712253.1:c.8170_8171insACACAC	XP_006712316.1:p.Thr2724delinsAsnThrPro
XM_011510574.1:c.8668_8669insACACAC	XP_011508876.1:p.Thr2890delinsAsnThrPro
XM_011510575.1:c.6265_6266insACACAC	XP_011508877.1:p.Thr2089delinsAsnThrPro
XM_017003304.1:c.6265_6266insACACAC	XP_016858793.1:p.Thr2089delinsAsnThrPro
XM_024452684.1:c.7450_7451insACACAC	XP_024308452.1:p.Thr2484delinsAsnThrPro
NM_004369.4:c.8671_8672insACACAC MANE Select	NP_004360.2:p.Thr2891delinsAsnThrPro
NM_057166.5:c.6850_6851insACACAC	NP_476507.3:p.Thr2284delinsAsnThrPro
NM_057167.4:c.8053_8054insACACAC	NP_476508.2:p.Thr2685delinsAsnThrPro