Canonical Allele Identifier: CA1332796153

Gene: COL4A3

Linked Data

• dbSNP Id: rs2065171587
• gnomAD v3: 2-227164962-CAGGCAGCGAGCGGA-C
• gnomAD v4: 2-227164962-CAGGCAGCGAGCGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164966_227164979del , CM000664.2:g.227164966_227164979del	GRCh38
NC_000002.11:g.228029682_228029695del , CM000664.1:g.228029682_228029695del	GRCh37
NC_000002.10:g.227737926_227737939del	NCBI36
NG_011591.1:g.5402_5415del , LRG_230:g.5402_5415del
NG_011592.1:g.4584_4597del , LRG_231:g.4584_4597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+153_87+166del MANE Select	ENSP00000379823.3:n.87+153_87+166del
ENST00000396578.7:c.87+153_87+166del	ENSP00000379823.3:n.87+153_87+166del
NM_000091.4:c.87+153_87+166del , LRG_230t1:c.87+153_87+166del	NP_000082.2:n.87+153_87+166del
XM_005246276.2:c.87+153_87+166del	XP_005246333.1:n.87+153_87+166del
XM_005246277.2:c.87+153_87+166del	XP_005246334.1:n.87+153_87+166del
XM_005246280.2:c.87+153_87+166del	XP_005246337.1:n.87+153_87+166del
XM_006712245.2:c.87+153_87+166del	XP_006712308.1:n.87+153_87+166del
XM_011510555.1:c.87+153_87+166del	XP_011508857.1:n.87+153_87+166del
XR_241280.2:n.225+153_225+166del
XM_005246277.3:c.87+153_87+166del	XP_005246334.1:n.87+153_87+166del
XM_005246280.3:c.87+153_87+166del	XP_005246337.1:n.87+153_87+166del
XM_006712245.3:c.87+153_87+166del	XP_006712308.1:n.87+153_87+166del
XM_017003295.1:c.87+153_87+166del	XP_016858784.1:n.87+153_87+166del
XR_001738601.1:n.225+153_225+166del
XR_241280.3:n.225+153_225+166del
NM_000091.5:c.87+153_87+166del MANE Select	NP_000082.2:n.87+153_87+166del