Canonical Allele Identifier: CA539869542

Gene: COL4A3

Linked Data

• dbSNP Id: rs1559782754
• gnomAD v2: 2-228029427-T-TG
• gnomAD v4: 2-227164711-T-TG
• MyVariant Identifiers: chr2:g.228029427_228029428insG (hg19) ; chr2:g.227164711_227164712insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164712dup , CM000664.2:g.227164712dup	GRCh38
NC_000002.11:g.228029428dup , CM000664.1:g.228029428dup	GRCh37
NC_000002.10:g.227737672dup	NCBI36
NG_011591.1:g.5148dup , LRG_230:g.5148dup
NG_011592.1:g.4848dup , LRG_231:g.4848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.-15dup MANE Select	ENSP00000379823.3:n.-15dup
ENST00000396578.7:c.-15dup	ENSP00000379823.3:n.-15dup
NM_000091.4:c.-15dup , LRG_230t1:c.-15dup	NP_000082.2:n.-15dup
XM_005246276.2:c.-15dup	XP_005246333.1:n.-15dup
XM_005246277.2:c.-15dup	XP_005246334.1:n.-15dup
XM_005246280.2:c.-15dup	XP_005246337.1:n.-15dup
XM_006712245.2:c.-15dup	XP_006712308.1:n.-15dup
XM_011510555.1:c.-15dup	XP_011508857.1:n.-15dup
XR_241280.2:n.124dup
XM_005246277.3:c.-15dup	XP_005246334.1:n.-15dup
XM_005246280.3:c.-15dup	XP_005246337.1:n.-15dup
XM_006712245.3:c.-15dup	XP_006712308.1:n.-15dup
XM_017003295.1:c.-15dup	XP_016858784.1:n.-15dup
XR_001738601.1:n.124dup
XR_241280.3:n.124dup
NM_000091.5:c.-15dup MANE Select	NP_000082.2:n.-15dup