Canonical Allele Identifier: CA1337617827

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360144_237360155delinsGCGGACCACGCT , CM000664.2:g.237360144_237360155delinsGCGGACCACGCT	GRCh38
NC_000002.11:g.238268787_238268798delinsGCGGACCACGCT , CM000664.1:g.238268787_238268798delinsGCGGACCACGCT	GRCh37
NC_000002.10:g.237933526_237933537delinsGCGGACCACGCT	NCBI36
NG_008676.1:g.59053_59064delinsAGCGTGGTCCGC , LRG_473:g.59053_59064delinsAGCGTGGTCCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5597_5608delinsAGCGTGGTCCGC	ENSP00000315873.4:p.Glu1866=
ENST00000295550.9:c.6215_6226delinsAGCGTGGTCCGC MANE Select	ENSP00000295550.4:p.Glu2072=
ENST00000295550.8:c.6215_6226delinsAGCGTGGTCCGC	ENSP00000295550.4:p.Glu2072=
ENST00000347401.7:c.4394_4405delinsAGCGTGGTCCGC	ENSP00000315609.4:p.Glu1465=
ENST00000353578.8:c.5597_5608delinsAGCGTGGTCCGC	ENSP00000315873.4:p.Glu1866=
ENST00000409809.5:c.5597_5608delinsAGCGTGGTCCGC	ENSP00000386844.1:p.Glu1866=
ENST00000472056.5:c.4394_4405delinsAGCGTGGTCCGC	ENSP00000418285.1:p.Glu1465=
NM_004369.3:c.6215_6226delinsAGCGTGGTCCGC , LRG_473t1:c.6215_6226delinsAGCGTGGTCCGC	NP_004360.2:p.Glu2072=
NM_057166.4:c.4394_4405delinsAGCGTGGTCCGC	NP_476507.3:p.Glu1465=
NM_057167.3:c.5597_5608delinsAGCGTGGTCCGC	NP_476508.2:p.Glu1866=
XM_005246065.1:c.5615_5626delinsAGCGTGGTCCGC	XP_005246122.1:p.Glu1872=
XM_005246066.1:c.4994_5005delinsAGCGTGGTCCGC	XP_005246123.1:p.Glu1665=
XM_006712253.1:c.5714_5725delinsAGCGTGGTCCGC	XP_006712316.1:p.Glu1905=
XM_011510574.1:c.6212_6223delinsAGCGTGGTCCGC	XP_011508876.1:p.Glu2071=
XM_011510575.1:c.3809_3820delinsAGCGTGGTCCGC	XP_011508877.1:p.Glu1270=
XM_017003304.1:c.3809_3820delinsAGCGTGGTCCGC	XP_016858793.1:p.Glu1270=
XM_024452684.1:c.4994_5005delinsAGCGTGGTCCGC	XP_024308452.1:p.Glu1665=
NM_004369.4:c.6215_6226delinsAGCGTGGTCCGC MANE Select	NP_004360.2:p.Glu2072=
NM_057166.5:c.4394_4405delinsAGCGTGGTCCGC	NP_476507.3:p.Glu1465=
NM_057167.4:c.5597_5608delinsAGCGTGGTCCGC	NP_476508.2:p.Glu1866=