Canonical Allele Identifier: CA2550313430

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108595528_108595529insAGCCGGCGC , CM000685.2:g.108595528_108595529insAGCCGGCGC	GRCh38
NC_000023.10:g.107838758_107838759insAGCCGGCGC , CM000685.1:g.107838758_107838759insAGCCGGCGC	GRCh37
NC_000023.9:g.107725414_107725415insAGCCGGCGC	NCBI36
NG_011977.1:g.160605_160606insAGCCGGCGC
NG_011977.2:g.160605_160606insAGCCGGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1443_1444insAGCCGGCGC MANE Select	ENSP00000331902.7:p.Cys481_Phe482insSerArgArg
ENST00000361603.7:c.1443_1444insAGCCGGCGC	ENSP00000354505.2:p.Cys481_Phe482insSerArgArg
ENST00000328300.10:c.1443_1444insAGCCGGCGC	ENSP00000331902.6:p.Cys481_Phe482insSerArgArg
ENST00000361603.6:c.1443_1444insAGCCGGCGC	ENSP00000354505.2:p.Cys481_Phe482insSerArgArg
ENST00000483338.1:n.899_900insAGCCGGCGC
NM_000495.4:c.1443_1444insAGCCGGCGC	NP_000486.1:p.Cys481_Phe482insSerArgArg
NM_033380.2:c.1443_1444insAGCCGGCGC	NP_203699.1:p.Cys481_Phe482insSerArgArg
XM_005262070.2:c.1443_1444insAGCCGGCGC	XP_005262127.1:p.Cys481_Phe482insSerArgArg
XM_005262072.3:c.1443_1444insAGCCGGCGC	XP_005262129.1:p.Cys481_Phe482insSerArgArg
XM_006724616.2:c.1443_1444insAGCCGGCGC	XP_006724679.1:p.Cys481_Phe482insSerArgArg
XM_011530849.1:c.1119_1120insAGCCGGCGC	XP_011529151.1:p.Cys373_Phe374insSerArgArg
XM_011530850.1:c.1443_1444insAGCCGGCGC	XP_011529152.1:p.Cys481_Phe482insSerArgArg
XM_011530849.2:c.1458_1459insAGCCGGCGC	XP_011529151.2:p.Cys486_Phe487insSerArgArg
XM_017029259.2:c.1458_1459insAGCCGGCGC	XP_016884748.1:p.Cys486_Phe487insSerArgArg
XM_017029260.1:c.1458_1459insAGCCGGCGC	XP_016884749.1:p.Cys486_Phe487insSerArgArg
XM_017029261.1:c.1458_1459insAGCCGGCGC	XP_016884750.1:p.Cys486_Phe487insSerArgArg
XM_017029262.2:c.1458_1459insAGCCGGCGC	XP_016884751.1:p.Cys486_Phe487insSerArgArg
XM_017029263.2:c.-223_-222insAGCCGGCGC	XP_016884752.1:n.-223_-222insAGCCGGCGC
NM_000495.5:c.1443_1444insAGCCGGCGC	NP_000486.1:p.Cys481_Phe482insSerArgArg
NM_033380.3:c.1443_1444insAGCCGGCGC MANE Select	NP_203699.1:p.Cys481_Phe482insSerArgArg