Canonical Allele Identifier: CA540463724

Gene: COL6A3

Linked Data

• dbSNP Id: rs1251873830
• gnomAD v2: 2-238267968-A-AAGGGTAGGT
• MyVariant Identifiers: chr2:g.238267968_238267969insAGGGTAGGT (hg19) ; chr2:g.237359325_237359326insAGGGTAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359325_237359326insAGGGTAGGT , CM000664.2:g.237359325_237359326insAGGGTAGGT	GRCh38
NC_000002.11:g.238267968_238267969insAGGGTAGGT , CM000664.1:g.238267968_238267969insAGGGTAGGT	GRCh37
NC_000002.10:g.237932707_237932708insAGGGTAGGT	NCBI36
NG_008676.1:g.59882_59883insACCTACCCT , LRG_473:g.59882_59883insACCTACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5691+36_5691+37insACCTACCCT	ENSP00000315873.4:n.5691+36_5691+37insACCTACCCT
ENST00000295550.9:c.6309+36_6309+37insACCTACCCT MANE Select	ENSP00000295550.4:n.6309+36_6309+37insACCTACCCT
ENST00000295550.8:c.6309+36_6309+37insACCTACCCT	ENSP00000295550.4:n.6309+36_6309+37insACCTACCCT
ENST00000347401.7:c.4488+36_4488+37insACCTACCCT	ENSP00000315609.4:n.4488+36_4488+37insACCTACCCT
ENST00000353578.8:c.5691+36_5691+37insACCTACCCT	ENSP00000315873.4:n.5691+36_5691+37insACCTACCCT
ENST00000409809.5:c.5691+36_5691+37insACCTACCCT	ENSP00000386844.1:n.5691+36_5691+37insACCTACCCT
ENST00000472056.5:c.4488+36_4488+37insACCTACCCT	ENSP00000418285.1:n.4488+36_4488+37insACCTACCCT
NM_004369.3:c.6309+36_6309+37insACCTACCCT , LRG_473t1:c.6309+36_6309+37insACCTACCCT	NP_004360.2:n.6309+36_6309+37insACCTACCCT
NM_057166.4:c.4488+36_4488+37insACCTACCCT	NP_476507.3:n.4488+36_4488+37insACCTACCCT
NM_057167.3:c.5691+36_5691+37insACCTACCCT	NP_476508.2:n.5691+36_5691+37insACCTACCCT
XM_005246065.1:c.5709+36_5709+37insACCTACCCT	XP_005246122.1:n.5709+36_5709+37insACCTACCCT
XM_005246066.1:c.5088+36_5088+37insACCTACCCT	XP_005246123.1:n.5088+36_5088+37insACCTACCCT
XM_006712253.1:c.5808+36_5808+37insACCTACCCT	XP_006712316.1:n.5808+36_5808+37insACCTACCCT
XM_011510574.1:c.6306+36_6306+37insACCTACCCT	XP_011508876.1:n.6306+36_6306+37insACCTACCCT
XM_011510575.1:c.3903+36_3903+37insACCTACCCT	XP_011508877.1:n.3903+36_3903+37insACCTACCCT
XM_017003304.1:c.3903+36_3903+37insACCTACCCT	XP_016858793.1:n.3903+36_3903+37insACCTACCCT
XM_024452684.1:c.5088+36_5088+37insACCTACCCT	XP_024308452.1:n.5088+36_5088+37insACCTACCCT
NM_004369.4:c.6309+36_6309+37insACCTACCCT MANE Select	NP_004360.2:n.6309+36_6309+37insACCTACCCT
NM_057166.5:c.4488+36_4488+37insACCTACCCT	NP_476507.3:n.4488+36_4488+37insACCTACCCT
NM_057167.4:c.5691+36_5691+37insACCTACCCT	NP_476508.2:n.5691+36_5691+37insACCTACCCT