Canonical Allele Identifier: CA2663792306

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336475-CTTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336478_237336481del , CM000664.2:g.237336478_237336481del	GRCh38
NC_000002.11:g.238245121_238245124del , CM000664.1:g.238245121_238245124del	GRCh37
NC_000002.10:g.237909860_237909863del	NCBI36
NG_008676.1:g.82729_82732del , LRG_473:g.82729_82732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1266_1269del
ENST00000353578.9:c.8003_8006del	ENSP00000315873.4:p.Thr2668SerfsTer3
ENST00000682957.1:c.748_751del
ENST00000684508.1:n.888_891del
ENST00000295550.9:c.8621_8624del MANE Select	ENSP00000295550.4:p.Thr2874SerfsTer3
ENST00000295550.8:c.8621_8624del	ENSP00000295550.4:p.Thr2874SerfsTer3
ENST00000347401.7:c.6797_6800del	ENSP00000315609.4:p.Thr2266SerfsTer3
ENST00000353578.8:c.8003_8006del	ENSP00000315873.4:p.Thr2668SerfsTer3
ENST00000409809.5:c.8003_8006del	ENSP00000386844.1:p.Thr2668SerfsTer3
ENST00000472056.5:c.6800_6803del	ENSP00000418285.1:p.Thr2267SerfsTer3
ENST00000491769.1:n.5063_5066del
NM_004369.3:c.8621_8624del , LRG_473t1:c.8621_8624del	NP_004360.2:p.Thr2874SerfsTer3
NM_057166.4:c.6800_6803del	NP_476507.3:p.Thr2267SerfsTer3
NM_057167.3:c.8003_8006del	NP_476508.2:p.Thr2668SerfsTer3
XM_005246065.1:c.8021_8024del	XP_005246122.1:p.Thr2674SerfsTer3
XM_005246066.1:c.7400_7403del	XP_005246123.1:p.Thr2467SerfsTer3
XM_006712253.1:c.8120_8123del	XP_006712316.1:p.Thr2707SerfsTer3
XM_011510574.1:c.8618_8621del	XP_011508876.1:p.Thr2873SerfsTer3
XM_011510575.1:c.6215_6218del	XP_011508877.1:p.Thr2072SerfsTer3
XM_017003304.1:c.6215_6218del	XP_016858793.1:p.Thr2072SerfsTer3
XM_024452684.1:c.7400_7403del	XP_024308452.1:p.Thr2467SerfsTer3
NM_004369.4:c.8621_8624del MANE Select	NP_004360.2:p.Thr2874SerfsTer3
NM_057166.5:c.6800_6803del	NP_476507.3:p.Thr2267SerfsTer3
NM_057167.4:c.8003_8006del	NP_476508.2:p.Thr2668SerfsTer3