Canonical Allele Identifier: CA539869596

Gene: COL4A3

Linked Data

• gnomAD v2: 2-228029598-TG-T
• gnomAD v4: 2-227164882-TG-T
• MyVariant Identifiers: chr2:g.228029599del (hg19) ; chr2:g.227164883del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164884del , CM000664.2:g.227164884del	GRCh38
NC_000002.11:g.228029600del , CM000664.1:g.228029600del	GRCh37
NC_000002.10:g.227737844del	NCBI36
NG_011591.1:g.5320del , LRG_230:g.5320del
NG_011592.1:g.4677del , LRG_231:g.4677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+71del MANE Select	ENSP00000379823.3:n.87+71del
ENST00000396578.7:c.87+71del	ENSP00000379823.3:n.87+71del
NM_000091.4:c.87+71del , LRG_230t1:c.87+71del	NP_000082.2:n.87+71del
XM_005246276.2:c.87+71del	XP_005246333.1:n.87+71del
XM_005246277.2:c.87+71del	XP_005246334.1:n.87+71del
XM_005246280.2:c.87+71del	XP_005246337.1:n.87+71del
XM_006712245.2:c.87+71del	XP_006712308.1:n.87+71del
XM_011510555.1:c.87+71del	XP_011508857.1:n.87+71del
XR_241280.2:n.225+71del
XM_005246277.3:c.87+71del	XP_005246334.1:n.87+71del
XM_005246280.3:c.87+71del	XP_005246337.1:n.87+71del
XM_006712245.3:c.87+71del	XP_006712308.1:n.87+71del
XM_017003295.1:c.87+71del	XP_016858784.1:n.87+71del
XR_001738601.1:n.225+71del
XR_241280.3:n.225+71del
NM_000091.5:c.87+71del MANE Select	NP_000082.2:n.87+71del