Canonical Allele Identifier: CA2839076181

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371899dup , CM000664.2:g.237371899dup	GRCh38
NC_000002.11:g.238280542dup , CM000664.1:g.238280542dup	GRCh37
NC_000002.10:g.237945281dup	NCBI36
NG_008676.1:g.47309dup , LRG_473:g.47309dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3500dup	ENSP00000315873.4:p.Asp1168ArgfsTer?
ENST00000295550.9:c.4118dup MANE Select	ENSP00000295550.4:p.Asp1374ArgfsTer?
ENST00000295550.8:c.4118dup	ENSP00000295550.4:p.Asp1374ArgfsTer?
ENST00000347401.7:c.2297dup	ENSP00000315609.4:p.Asp767ArgfsTer?
ENST00000353578.8:c.3500dup	ENSP00000315873.4:p.Asp1168ArgfsTer?
ENST00000392003.6:c.2897dup	ENSP00000375860.2:p.Asp967ArgfsTer?
ENST00000392004.7:c.3500dup	ENSP00000375861.3:p.Asp1168ArgfsTer?
ENST00000409809.5:c.3500dup	ENSP00000386844.1:p.Asp1168ArgfsTer?
ENST00000472056.5:c.2297dup	ENSP00000418285.1:p.Asp767ArgfsTer?
NM_004369.3:c.4118dup , LRG_473t1:c.4118dup	NP_004360.2:p.Asp1374ArgfsTer?
NM_057164.4:c.2897dup	NP_476505.3:p.Asp967ArgfsTer?
NM_057165.4:c.3500dup	NP_476506.3:p.Asp1168ArgfsTer?
NM_057166.4:c.2297dup	NP_476507.3:p.Asp767ArgfsTer?
NM_057167.3:c.3500dup	NP_476508.2:p.Asp1168ArgfsTer?
XM_005246065.1:c.3518dup	XP_005246122.1:p.Asp1174ArgfsTer?
XM_005246066.1:c.2897dup	XP_005246123.1:p.Asp967ArgfsTer?
XM_006712253.1:c.4118dup	XP_006712316.1:p.Asp1374ArgfsTer?
XM_011510574.1:c.4118dup	XP_011508876.1:p.Asp1374ArgfsTer?
XM_011510575.1:c.1712dup	XP_011508877.1:p.Asp572ArgfsTer?
XM_017003304.1:c.1712dup	XP_016858793.1:p.Asp572ArgfsTer?
XM_024452684.1:c.2897dup	XP_024308452.1:p.Asp967ArgfsTer?
NM_004369.4:c.4118dup MANE Select	NP_004360.2:p.Asp1374ArgfsTer?
NM_057164.5:c.2897dup	NP_476505.3:p.Asp967ArgfsTer?
NM_057165.5:c.3500dup	NP_476506.3:p.Asp1168ArgfsTer?
NM_057166.5:c.2297dup	NP_476507.3:p.Asp767ArgfsTer?
NM_057167.4:c.3500dup	NP_476508.2:p.Asp1168ArgfsTer?