Canonical Allele Identifier: CA658657257

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336169del , CM000664.2:g.237336169del	GRCh38
NC_000002.11:g.238244812del , CM000664.1:g.238244812del	GRCh37
NC_000002.10:g.237909551del	NCBI36
NG_008676.1:g.83039del , LRG_473:g.83039del

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8931del MANE Select	NP_004360.2:p.Ala2978LeufsTer23
ENST00000295550.9:c.8931del MANE Select	ENSP00000295550.4:p.Ala2978LeufsTer23
NM_004369.3:c.8931del , LRG_473t1:c.8931del	NP_004360.2:p.Ala2978LeufsTer23
NM_057166.4:c.7110del	NP_476507.3:p.Ala2371LeufsTer23
NM_057166.5:c.7110del	NP_476507.3:p.Ala2371LeufsTer23
NM_057167.3:c.8313del	NP_476508.2:p.Ala2772LeufsTer23
NM_057167.4:c.8313del	NP_476508.2:p.Ala2772LeufsTer23
ENST00000295550.8:c.8931del	ENSP00000295550.4:p.Ala2978LeufsTer23
ENST00000347401.7:c.7107del	ENSP00000315609.4:p.Ala2370LeufsTer23
ENST00000347401.8:c.1576del
ENST00000353578.8:c.8313del	ENSP00000315873.4:p.Ala2772LeufsTer23
ENST00000353578.9:c.8313del	ENSP00000315873.4:p.Ala2772LeufsTer23
ENST00000409809.5:c.8313del	ENSP00000386844.1:p.Ala2772LeufsTer23
ENST00000472056.5:c.7110del	ENSP00000418285.1:p.Ala2371LeufsTer23
ENST00000491769.1:n.5373del
ENST00000682957.1:c.1058del
ENST00000684508.1:n.1198del
XM_005246065.1:c.8331del	XP_005246122.1:p.Ala2778LeufsTer23
XM_005246066.1:c.7710del	XP_005246123.1:p.Ala2571LeufsTer23
XM_006712253.1:c.8430del	XP_006712316.1:p.Ala2811LeufsTer23
XM_011510574.1:c.8928del	XP_011508876.1:p.Ala2977LeufsTer23
XM_011510575.1:c.6525del	XP_011508877.1:p.Ala2176LeufsTer23
XM_017003304.1:c.6525del	XP_016858793.1:p.Ala2176LeufsTer23
XM_024452684.1:c.7710del	XP_024308452.1:p.Ala2571LeufsTer23