Canonical Allele Identifier: CA2577264346

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164854-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164860_227164862del , CM000664.2:g.227164860_227164862del	GRCh38
NC_000002.11:g.228029576_228029578del , CM000664.1:g.228029576_228029578del	GRCh37
NC_000002.10:g.227737820_227737822del	NCBI36
NG_011591.1:g.5296_5298del , LRG_230:g.5296_5298del
NG_011592.1:g.4703_4705del , LRG_231:g.4703_4705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+47_87+49del MANE Select	ENSP00000379823.3:n.87+47_87+49del
ENST00000396578.7:c.87+47_87+49del	ENSP00000379823.3:n.87+47_87+49del
NM_000091.4:c.87+47_87+49del , LRG_230t1:c.87+47_87+49del	NP_000082.2:n.87+47_87+49del
XM_005246276.2:c.87+47_87+49del	XP_005246333.1:n.87+47_87+49del
XM_005246277.2:c.87+47_87+49del	XP_005246334.1:n.87+47_87+49del
XM_005246280.2:c.87+47_87+49del	XP_005246337.1:n.87+47_87+49del
XM_006712245.2:c.87+47_87+49del	XP_006712308.1:n.87+47_87+49del
XM_011510555.1:c.87+47_87+49del	XP_011508857.1:n.87+47_87+49del
XR_241280.2:n.225+47_225+49del
XM_005246277.3:c.87+47_87+49del	XP_005246334.1:n.87+47_87+49del
XM_005246280.3:c.87+47_87+49del	XP_005246337.1:n.87+47_87+49del
XM_006712245.3:c.87+47_87+49del	XP_006712308.1:n.87+47_87+49del
XM_017003295.1:c.87+47_87+49del	XP_016858784.1:n.87+47_87+49del
XR_001738601.1:n.225+47_225+49del
XR_241280.3:n.225+47_225+49del
NM_000091.5:c.87+47_87+49del MANE Select	NP_000082.2:n.87+47_87+49del