Canonical Allele Identifier: CA1332796141

Gene: COL4A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164938_227164950delinsGAGGGCTTCACGC , CM000664.2:g.227164938_227164950delinsGAGGGCTTCACGC	GRCh38
NC_000002.11:g.228029654_228029666delinsGAGGGCTTCACGC , CM000664.1:g.228029654_228029666delinsGAGGGCTTCACGC	GRCh37
NC_000002.10:g.227737898_227737910delinsGAGGGCTTCACGC	NCBI36
NG_011591.1:g.5374_5386delinsGAGGGCTTCACGC , LRG_230:g.5374_5386delinsGAGGGCTTCACGC
NG_011592.1:g.4610_4622delinsGCGTGAAGCCCTC , LRG_231:g.4610_4622delinsGCGTGAAGCCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+125_87+137delinsGAGGGCTTCACGC MANE Select	ENSP00000379823.3:n.87+125_87+137delinsGAGGGCTTCACGC
ENST00000396578.7:c.87+125_87+137delinsGAGGGCTTCACGC	ENSP00000379823.3:n.87+125_87+137delinsGAGGGCTTCACGC
NM_000091.4:c.87+125_87+137delinsGAGGGCTTCACGC , LRG_230t1:c.87+125_87+137delinsGAGGGCTTCACGC	NP_000082.2:n.87+125_87+137delinsGAGGGCTTCACGC
XM_005246276.2:c.87+125_87+137delinsGAGGGCTTCACGC	XP_005246333.1:n.87+125_87+137delinsGAGGGCTTCACGC
XM_005246277.2:c.87+125_87+137delinsGAGGGCTTCACGC	XP_005246334.1:n.87+125_87+137delinsGAGGGCTTCACGC
XM_005246280.2:c.87+125_87+137delinsGAGGGCTTCACGC	XP_005246337.1:n.87+125_87+137delinsGAGGGCTTCACGC
XM_006712245.2:c.87+125_87+137delinsGAGGGCTTCACGC	XP_006712308.1:n.87+125_87+137delinsGAGGGCTTCACGC
XM_011510555.1:c.87+125_87+137delinsGAGGGCTTCACGC	XP_011508857.1:n.87+125_87+137delinsGAGGGCTTCACGC
XR_241280.2:n.225+125_225+137delinsGAGGGCTTCACGC
XM_005246277.3:c.87+125_87+137delinsGAGGGCTTCACGC	XP_005246334.1:n.87+125_87+137delinsGAGGGCTTCACGC
XM_005246280.3:c.87+125_87+137delinsGAGGGCTTCACGC	XP_005246337.1:n.87+125_87+137delinsGAGGGCTTCACGC
XM_006712245.3:c.87+125_87+137delinsGAGGGCTTCACGC	XP_006712308.1:n.87+125_87+137delinsGAGGGCTTCACGC
XM_017003295.1:c.87+125_87+137delinsGAGGGCTTCACGC	XP_016858784.1:n.87+125_87+137delinsGAGGGCTTCACGC
XR_001738601.1:n.225+125_225+137delinsGAGGGCTTCACGC
XR_241280.3:n.225+125_225+137delinsGAGGGCTTCACGC
NM_000091.5:c.87+125_87+137delinsGAGGGCTTCACGC MANE Select	NP_000082.2:n.87+125_87+137delinsGAGGGCTTCACGC