Canonical Allele Identifier: CA1332796096
Gene: COL4A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227164868_227164869delinsTC , CM000664.2:g.227164868_227164869delinsTC GRCh38
NC_000002.11:g.228029584_228029585delinsTC , CM000664.1:g.228029584_228029585delinsTC GRCh37
NC_000002.10:g.227737828_227737829delinsTC NCBI36
NG_011591.1:g.5304_5305delinsTC , LRG_230:g.5304_5305delinsTC
NG_011592.1:g.4691_4692delinsGA , LRG_231:g.4691_4692delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.87+55_87+56delinsTC MANE Select ENSP00000379823.3:n.87+55_87+56delinsTC
ENST00000396578.7:c.87+55_87+56delinsTC ENSP00000379823.3:n.87+55_87+56delinsTC
NM_000091.4:c.87+55_87+56delinsTC , LRG_230t1:c.87+55_87+56delinsTC NP_000082.2:n.87+55_87+56delinsTC
XM_005246276.2:c.87+55_87+56delinsTC XP_005246333.1:n.87+55_87+56delinsTC
XM_005246277.2:c.87+55_87+56delinsTC XP_005246334.1:n.87+55_87+56delinsTC
XM_005246280.2:c.87+55_87+56delinsTC XP_005246337.1:n.87+55_87+56delinsTC
XM_006712245.2:c.87+55_87+56delinsTC XP_006712308.1:n.87+55_87+56delinsTC
XM_011510555.1:c.87+55_87+56delinsTC XP_011508857.1:n.87+55_87+56delinsTC
XR_241280.2:n.225+55_225+56delinsTC
XM_005246277.3:c.87+55_87+56delinsTC XP_005246334.1:n.87+55_87+56delinsTC
XM_005246280.3:c.87+55_87+56delinsTC XP_005246337.1:n.87+55_87+56delinsTC
XM_006712245.3:c.87+55_87+56delinsTC XP_006712308.1:n.87+55_87+56delinsTC
XM_017003295.1:c.87+55_87+56delinsTC XP_016858784.1:n.87+55_87+56delinsTC
XR_001738601.1:n.225+55_225+56delinsTC
XR_241280.3:n.225+55_225+56delinsTC
NM_000091.5:c.87+55_87+56delinsTC MANE Select NP_000082.2:n.87+55_87+56delinsTC