Canonical Allele Identifier: CA2573130114

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336364del , CM000664.2:g.237336364del	GRCh38
NC_000002.11:g.238245007del , CM000664.1:g.238245007del	GRCh37
NC_000002.10:g.237909746del	NCBI36
NG_008676.1:g.82845del , LRG_473:g.82845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1382del
ENST00000353578.9:c.8119del	ENSP00000315873.4:p.Ala2707ProfsTer24
ENST00000682957.1:c.864del
ENST00000684508.1:n.1004del
ENST00000295550.9:c.8737del MANE Select	ENSP00000295550.4:p.Ala2913ProfsTer24
ENST00000295550.8:c.8737del	ENSP00000295550.4:p.Ala2913ProfsTer24
ENST00000347401.7:c.6913del	ENSP00000315609.4:p.Ala2305ProfsTer24
ENST00000353578.8:c.8119del	ENSP00000315873.4:p.Ala2707ProfsTer24
ENST00000409809.5:c.8119del	ENSP00000386844.1:p.Ala2707ProfsTer24
ENST00000472056.5:c.6916del	ENSP00000418285.1:p.Ala2306ProfsTer24
ENST00000491769.1:n.5179del
NM_004369.3:c.8737del , LRG_473t1:c.8737del	NP_004360.2:p.Ala2913ProfsTer24
NM_057166.4:c.6916del	NP_476507.3:p.Ala2306ProfsTer24
NM_057167.3:c.8119del	NP_476508.2:p.Ala2707ProfsTer24
XM_005246065.1:c.8137del	XP_005246122.1:p.Ala2713ProfsTer24
XM_005246066.1:c.7516del	XP_005246123.1:p.Ala2506ProfsTer24
XM_006712253.1:c.8236del	XP_006712316.1:p.Ala2746ProfsTer24
XM_011510574.1:c.8734del	XP_011508876.1:p.Ala2912ProfsTer24
XM_011510575.1:c.6331del	XP_011508877.1:p.Ala2111ProfsTer24
XM_017003304.1:c.6331del	XP_016858793.1:p.Ala2111ProfsTer24
XM_024452684.1:c.7516del	XP_024308452.1:p.Ala2506ProfsTer24
NM_004369.4:c.8737del MANE Select	NP_004360.2:p.Ala2913ProfsTer24
NM_057166.5:c.6916del	NP_476507.3:p.Ala2306ProfsTer24
NM_057167.4:c.8119del	NP_476508.2:p.Ala2707ProfsTer24