Canonical Allele Identifier: CA1332796078
Gene: COL4A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227164836_227164883delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG , CM000664.2:g.227164836_227164883delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG GRCh38
NC_000002.11:g.228029552_228029599delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG , CM000664.1:g.228029552_228029599delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG GRCh37
NC_000002.10:g.227737796_227737843delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG NCBI36
NG_011591.1:g.5272_5319delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG , LRG_230:g.5272_5319delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG
NG_011592.1:g.4677_4724delinsCAGCGCGTCCCCCGGACGCGTGGAGGAGGGATGGAAGTGCGGGGGTGG , LRG_231:g.4677_4724delinsCAGCGCGTCCCCCGGACGCGTGGAGGAGGGATGGAAGTGCGGGGGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG MANE Select ENSP00000379823.3:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCC...
ENST00000396578.7:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG ENSP00000379823.3:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCC...
NM_000091.4:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG , LRG_230t1:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG NP_000082.2:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACG...
XM_005246276.2:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_005246333.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XM_005246277.2:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_005246334.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XM_005246280.2:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_005246337.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XM_006712245.2:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_006712308.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XM_011510555.1:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_011508857.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XR_241280.2:n.225+23_225+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG
XM_005246277.3:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_005246334.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XM_005246280.3:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_005246337.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XM_006712245.3:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_006712308.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XM_017003295.1:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG XP_016858784.1:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCC...
XR_001738601.1:n.225+23_225+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG
XR_241280.3:n.225+23_225+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG
NM_000091.5:c.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACGCGTCCGGGGGACGCGCTG MANE Select NP_000082.2:n.87+23_87+70delinsCCACCCCCGCACTTCCATCCCTCCTCCACG...