Canonical Allele Identifier: CA2580066083

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325578_237325582dup , CM000664.2:g.237325578_237325582dup	GRCh38
NC_000002.11:g.238234221_238234225dup , CM000664.1:g.238234221_238234225dup	GRCh37
NC_000002.10:g.237898960_237898964dup	NCBI36
NG_008676.1:g.93627_93631dup , LRG_473:g.93627_93631dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9472_9476dup MANE Select	NP_004360.2:p.Glu3159AspfsTer18
ENST00000295550.9:c.9472_9476dup MANE Select	ENSP00000295550.4:p.Glu3159AspfsTer18
NM_004369.3:c.9472_9476dup , LRG_473t1:c.9472_9476dup	NP_004360.2:p.Glu3159AspfsTer18
NM_057166.4:c.7651_7655dup	NP_476507.3:p.Glu2552AspfsTer18
NM_057166.5:c.7651_7655dup	NP_476507.3:p.Glu2552AspfsTer18
NM_057167.3:c.8854_8858dup	NP_476508.2:p.Glu2953AspfsTer18
NM_057167.4:c.8854_8858dup	NP_476508.2:p.Glu2953AspfsTer18
ENST00000295550.8:c.9472_9476dup	ENSP00000295550.4:p.Glu3159AspfsTer18
ENST00000347401.7:c.7648_7652dup	ENSP00000315609.4:p.Glu2551AspfsTer18
ENST00000347401.8:c.1853_1857dup
ENST00000353578.8:c.8854_8858dup	ENSP00000315873.4:p.Glu2953AspfsTer18
ENST00000353578.9:c.8854_8858dup	ENSP00000315873.4:p.Glu2953AspfsTer18
ENST00000409809.5:c.8854_8858dup	ENSP00000386844.1:p.Glu2953AspfsTer18
ENST00000472056.5:c.7651_7655dup	ENSP00000418285.1:p.Glu2552AspfsTer18
ENST00000473258.1:n.4600_4604dup
ENST00000491769.1:n.5914_5918dup
ENST00000682957.1:c.1599_1603dup
ENST00000683348.1:c.338_342dup	ENSP00000508058.1:n.338_342dup
XM_005246065.1:c.8872_8876dup	XP_005246122.1:p.Glu2959AspfsTer18
XM_005246066.1:c.8251_8255dup	XP_005246123.1:p.Glu2752AspfsTer18
XM_006712253.1:c.8971_8975dup	XP_006712316.1:p.Glu2992AspfsTer18
XM_011510574.1:c.9469_9473dup	XP_011508876.1:p.Glu3158AspfsTer18
XM_011510575.1:c.7066_7070dup	XP_011508877.1:p.Glu2357AspfsTer18
XM_017003304.1:c.7066_7070dup	XP_016858793.1:p.Glu2357AspfsTer18
XM_024452684.1:c.8251_8255dup	XP_024308452.1:p.Glu2752AspfsTer18