Canonical Allele Identifier: CA2187500

Gene: COL6A3

Linked Data

• dbSNP Id: rs768158386
• ExAC: 2:238245221 AAAAT / A
• gnomAD v2: 2-238245221-AAAAT-A
• MyVariant Identifiers: chr2:g.238245222_238245225del (hg19) ; chr2:g.237336579_237336582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336586_237336589del , CM000664.2:g.237336586_237336589del	GRCh38
NC_000002.11:g.238245229_238245232del , CM000664.1:g.238245229_238245232del	GRCh37
NC_000002.10:g.237909968_237909971del	NCBI36
NG_008676.1:g.82626_82629del , LRG_473:g.82626_82629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1213-50_1213-47del
ENST00000353578.9:c.7950-50_7950-47del	ENSP00000315873.4:n.7950-50_7950-47del
ENST00000682957.1:c.695-50_695-47del
ENST00000684508.1:n.835-50_835-47del
ENST00000295550.9:c.8568-50_8568-47del MANE Select	ENSP00000295550.4:n.8568-50_8568-47del
ENST00000295550.8:c.8568-50_8568-47del	ENSP00000295550.4:n.8568-50_8568-47del
ENST00000347401.7:c.6744-50_6744-47del	ENSP00000315609.4:n.6744-50_6744-47del
ENST00000353578.8:c.7950-50_7950-47del	ENSP00000315873.4:n.7950-50_7950-47del
ENST00000409809.5:c.7950-50_7950-47del	ENSP00000386844.1:n.7950-50_7950-47del
ENST00000472056.5:c.6747-50_6747-47del	ENSP00000418285.1:n.6747-50_6747-47del
ENST00000491769.1:n.5010-50_5010-47del
NM_004369.3:c.8568-50_8568-47del , LRG_473t1:c.8568-50_8568-47del	NP_004360.2:n.8568-50_8568-47del
NM_057166.4:c.6747-50_6747-47del	NP_476507.3:n.6747-50_6747-47del
NM_057167.3:c.7950-50_7950-47del	NP_476508.2:n.7950-50_7950-47del
XM_005246065.1:c.7968-50_7968-47del	XP_005246122.1:n.7968-50_7968-47del
XM_005246066.1:c.7347-50_7347-47del	XP_005246123.1:n.7347-50_7347-47del
XM_006712253.1:c.8067-50_8067-47del	XP_006712316.1:n.8067-50_8067-47del
XM_011510574.1:c.8565-50_8565-47del	XP_011508876.1:n.8565-50_8565-47del
XM_011510575.1:c.6162-50_6162-47del	XP_011508877.1:n.6162-50_6162-47del
XM_017003304.1:c.6162-50_6162-47del	XP_016858793.1:n.6162-50_6162-47del
XM_024452684.1:c.7347-50_7347-47del	XP_024308452.1:n.7347-50_7347-47del
NM_004369.4:c.8568-50_8568-47del MANE Select	NP_004360.2:n.8568-50_8568-47del
NM_057166.5:c.6747-50_6747-47del	NP_476507.3:n.6747-50_6747-47del
NM_057167.4:c.7950-50_7950-47del	NP_476508.2:n.7950-50_7950-47del