Canonical Allele Identifier: CA2754513859
Gene: COL4A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227164720_227164721del , CM000664.2:g.227164720_227164721del GRCh38
NC_000002.11:g.228029436_228029437del , CM000664.1:g.228029436_228029437del GRCh37
NC_000002.10:g.227737680_227737681del NCBI36
NG_011591.1:g.5156_5157del , LRG_230:g.5156_5157del
NG_011592.1:g.4845_4846del , LRG_231:g.4845_4846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.-7_-6del MANE Select ENSP00000379823.3:n.-7_-6del
ENST00000396578.7:c.-7_-6del ENSP00000379823.3:n.-7_-6del
NM_000091.4:c.-7_-6del , LRG_230t1:c.-7_-6del NP_000082.2:n.-7_-6del
XM_005246276.2:c.-7_-6del XP_005246333.1:n.-7_-6del
XM_005246277.2:c.-7_-6del XP_005246334.1:n.-7_-6del
XM_005246280.2:c.-7_-6del XP_005246337.1:n.-7_-6del
XM_006712245.2:c.-7_-6del XP_006712308.1:n.-7_-6del
XM_011510555.1:c.-7_-6del XP_011508857.1:n.-7_-6del
XR_241280.2:n.132_133del
XM_005246277.3:c.-7_-6del XP_005246334.1:n.-7_-6del
XM_005246280.3:c.-7_-6del XP_005246337.1:n.-7_-6del
XM_006712245.3:c.-7_-6del XP_006712308.1:n.-7_-6del
XM_017003295.1:c.-7_-6del XP_016858784.1:n.-7_-6del
XR_001738601.1:n.132_133del
XR_241280.3:n.132_133del
NM_000091.5:c.-7_-6del MANE Select NP_000082.2:n.-7_-6del