Canonical Allele Identifier: CA645372714

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 432637
• ClinVar RCV Id: RCV000497331
• dbSNP Id: rs1553553248
• MyVariant Identifiers: chr2:g.238267855_238267863del (hg19) ; chr2:g.237359212_237359220del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359221_237359229del , CM000664.2:g.237359221_237359229del	GRCh38
NC_000002.11:g.238267864_238267872del , CM000664.1:g.238267864_238267872del	GRCh37
NC_000002.10:g.237932603_237932611del	NCBI36
NG_008676.1:g.59988_59996del , LRG_473:g.59988_59996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5722_5730del	ENSP00000315873.4:p.Leu1908_Gly1910del
ENST00000295550.9:c.6340_6348del MANE Select	ENSP00000295550.4:p.Leu2114_Gly2116del
ENST00000295550.8:c.6340_6348del	ENSP00000295550.4:p.Leu2114_Gly2116del
ENST00000347401.7:c.4519_4527del	ENSP00000315609.4:p.Leu1507_Gly1509del
ENST00000353578.8:c.5722_5730del	ENSP00000315873.4:p.Leu1908_Gly1910del
ENST00000409809.5:c.5722_5730del	ENSP00000386844.1:p.Leu1908_Gly1910del
ENST00000472056.5:c.4519_4527del	ENSP00000418285.1:p.Leu1507_Gly1509del
NM_004369.3:c.6340_6348del , LRG_473t1:c.6340_6348del	NP_004360.2:p.Leu2114_Gly2116del
NM_057166.4:c.4519_4527del	NP_476507.3:p.Leu1507_Gly1509del
NM_057167.3:c.5722_5730del	NP_476508.2:p.Leu1908_Gly1910del
XM_005246065.1:c.5740_5748del	XP_005246122.1:p.Leu1914_Gly1916del
XM_005246066.1:c.5119_5127del	XP_005246123.1:p.Leu1707_Gly1709del
XM_006712253.1:c.5839_5847del	XP_006712316.1:p.Leu1947_Gly1949del
XM_011510574.1:c.6337_6345del	XP_011508876.1:p.Leu2113_Gly2115del
XM_011510575.1:c.3934_3942del	XP_011508877.1:p.Leu1312_Gly1314del
XM_017003304.1:c.3934_3942del	XP_016858793.1:p.Leu1312_Gly1314del
XM_024452684.1:c.5119_5127del	XP_024308452.1:p.Leu1707_Gly1709del
NM_004369.4:c.6340_6348del MANE Select	NP_004360.2:p.Leu2114_Gly2116del
NM_057166.5:c.4519_4527del	NP_476507.3:p.Leu1507_Gly1509del
NM_057167.4:c.5722_5730del	NP_476508.2:p.Leu1908_Gly1910del