Canonical Allele Identifier: CA2754786750

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336424_237336425insTTGG , CM000664.2:g.237336424_237336425insTTGG	GRCh38
NC_000002.11:g.238245067_238245068insTTGG , CM000664.1:g.238245067_238245068insTTGG	GRCh37
NC_000002.10:g.237909806_237909807insTTGG	NCBI36
NG_008676.1:g.82784_82785insCAAC , LRG_473:g.82784_82785insCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1321_1322insCAAC
ENST00000353578.9:c.8058_8059insCAAC	ENSP00000315873.4:p.Thr2687GlnfsTer?
ENST00000682957.1:c.803_804insCAAC
ENST00000684508.1:n.943_944insCAAC
ENST00000295550.9:c.8676_8677insCAAC MANE Select	ENSP00000295550.4:p.Thr2893GlnfsTer?
ENST00000295550.8:c.8676_8677insCAAC	ENSP00000295550.4:p.Thr2893GlnfsTer?
ENST00000347401.7:c.6852_6853insCAAC	ENSP00000315609.4:p.Thr2285GlnfsTer?
ENST00000353578.8:c.8058_8059insCAAC	ENSP00000315873.4:p.Thr2687GlnfsTer?
ENST00000409809.5:c.8058_8059insCAAC	ENSP00000386844.1:p.Thr2687GlnfsTer?
ENST00000472056.5:c.6855_6856insCAAC	ENSP00000418285.1:p.Thr2286GlnfsTer?
ENST00000491769.1:n.5118_5119insCAAC
NM_004369.3:c.8676_8677insCAAC , LRG_473t1:c.8676_8677insCAAC	NP_004360.2:p.Thr2893GlnfsTer?
NM_057166.4:c.6855_6856insCAAC	NP_476507.3:p.Thr2286GlnfsTer?
NM_057167.3:c.8058_8059insCAAC	NP_476508.2:p.Thr2687GlnfsTer?
XM_005246065.1:c.8076_8077insCAAC	XP_005246122.1:p.Thr2693GlnfsTer?
XM_005246066.1:c.7455_7456insCAAC	XP_005246123.1:p.Thr2486GlnfsTer?
XM_006712253.1:c.8175_8176insCAAC	XP_006712316.1:p.Thr2726GlnfsTer?
XM_011510574.1:c.8673_8674insCAAC	XP_011508876.1:p.Thr2892GlnfsTer?
XM_011510575.1:c.6270_6271insCAAC	XP_011508877.1:p.Thr2091GlnfsTer?
XM_017003304.1:c.6270_6271insCAAC	XP_016858793.1:p.Thr2091GlnfsTer?
XM_024452684.1:c.7455_7456insCAAC	XP_024308452.1:p.Thr2486GlnfsTer?
NM_004369.4:c.8676_8677insCAAC MANE Select	NP_004360.2:p.Thr2893GlnfsTer?
NM_057166.5:c.6855_6856insCAAC	NP_476507.3:p.Thr2286GlnfsTer?
NM_057167.4:c.8058_8059insCAAC	NP_476508.2:p.Thr2687GlnfsTer?