Canonical Allele Identifier: CA2663798091

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237359189-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359190del , CM000664.2:g.237359190del	GRCh38
NC_000002.11:g.238267833del , CM000664.1:g.238267833del	GRCh37
NC_000002.10:g.237932572del	NCBI36
NG_008676.1:g.60018del , LRG_473:g.60018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5736+16del	ENSP00000315873.4:n.5736+16del
ENST00000295550.9:c.6354+16del MANE Select	ENSP00000295550.4:n.6354+16del
ENST00000295550.8:c.6354+16del	ENSP00000295550.4:n.6354+16del
ENST00000347401.7:c.4533+16del	ENSP00000315609.4:n.4533+16del
ENST00000353578.8:c.5736+16del	ENSP00000315873.4:n.5736+16del
ENST00000409809.5:c.5736+16del	ENSP00000386844.1:n.5736+16del
ENST00000472056.5:c.4533+16del	ENSP00000418285.1:n.4533+16del
NM_004369.3:c.6354+16del , LRG_473t1:c.6354+16del	NP_004360.2:n.6354+16del
NM_057166.4:c.4533+16del	NP_476507.3:n.4533+16del
NM_057167.3:c.5736+16del	NP_476508.2:n.5736+16del
XM_005246065.1:c.5754+16del	XP_005246122.1:n.5754+16del
XM_005246066.1:c.5133+16del	XP_005246123.1:n.5133+16del
XM_006712253.1:c.5853+16del	XP_006712316.1:n.5853+16del
XM_011510574.1:c.6351+16del	XP_011508876.1:n.6351+16del
XM_011510575.1:c.3948+16del	XP_011508877.1:n.3948+16del
XM_017003304.1:c.3948+16del	XP_016858793.1:n.3948+16del
XM_024452684.1:c.5133+16del	XP_024308452.1:n.5133+16del
NM_004369.4:c.6354+16del MANE Select	NP_004360.2:n.6354+16del
NM_057166.5:c.4533+16del	NP_476507.3:n.4533+16del
NM_057167.4:c.5736+16del	NP_476508.2:n.5736+16del