Canonical Allele Identifier: CA2450721526

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694705_108694715delinsATTAATCGGCT , CM000685.2:g.108694705_108694715delinsATTAATCGGCT	GRCh38
NC_000023.10:g.107937935_107937945delinsATTAATCGGCT , CM000685.1:g.107937935_107937945delinsATTAATCGGCT	GRCh37
NC_000023.9:g.107824591_107824601delinsATTAATCGGCT	NCBI36
NG_011977.1:g.259782_259792delinsATTAATCGGCT
NG_011977.2:g.259782_259792delinsATTAATCGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4707-102_4707-92delinsATTAATCGGCT MANE Select	ENSP00000331902.7:n.4707-102_4707-92delinsATTAATCGGCT
ENST00000361603.7:c.4689-102_4689-92delinsATTAATCGGCT	ENSP00000354505.2:n.4689-102_4689-92delinsATTAATCGGCT
ENST00000510690.2:n.1201-102_1201-92delinsATTAATCGGCT
ENST00000644079.1:n.1091_1101delinsATTAATCGGCT
ENST00000328300.10:c.4707-102_4707-92delinsATTAATCGGCT	ENSP00000331902.6:n.4707-102_4707-92delinsATTAATCGGCT
ENST00000361603.6:c.4689-102_4689-92delinsATTAATCGGCT	ENSP00000354505.2:n.4689-102_4689-92delinsATTAATCGGCT
ENST00000504541.1:c.105-102_105-92delinsATTAATCGGCT	ENSP00000424845.1:n.105-102_105-92delinsATTAATCGGCT
ENST00000515658.1:c.325-1592_325-1582delinsATTAATCGGCT
NM_000495.4:c.4689-102_4689-92delinsATTAATCGGCT	NP_000486.1:n.4689-102_4689-92delinsATTAATCGGCT
NM_033380.2:c.4707-102_4707-92delinsATTAATCGGCT	NP_203699.1:n.4707-102_4707-92delinsATTAATCGGCT
XM_005262070.2:c.4698-102_4698-92delinsATTAATCGGCT	XP_005262127.1:n.4698-102_4698-92delinsATTAATCGGCT
XM_006724616.2:c.4707-102_4707-92delinsATTAATCGGCT	XP_006724679.1:n.4707-102_4707-92delinsATTAATCGGCT
XM_011530849.1:c.4383-102_4383-92delinsATTAATCGGCT	XP_011529151.1:n.4383-102_4383-92delinsATTAATCGGCT
XM_011530851.1:c.2280-102_2280-92delinsATTAATCGGCT	XP_011529153.1:n.2280-102_2280-92delinsATTAATCGGCT
XM_011530849.2:c.4722-102_4722-92delinsATTAATCGGCT	XP_011529151.2:n.4722-102_4722-92delinsATTAATCGGCT
XM_017029259.2:c.4713-102_4713-92delinsATTAATCGGCT	XP_016884748.1:n.4713-102_4713-92delinsATTAATCGGCT
XM_017029260.1:c.4704-102_4704-92delinsATTAATCGGCT	XP_016884749.1:n.4704-102_4704-92delinsATTAATCGGCT
XM_017029263.2:c.3042-102_3042-92delinsATTAATCGGCT	XP_016884752.1:n.3042-102_3042-92delinsATTAATCGGCT
NM_000495.5:c.4689-102_4689-92delinsATTAATCGGCT	NP_000486.1:n.4689-102_4689-92delinsATTAATCGGCT
NM_033380.3:c.4707-102_4707-92delinsATTAATCGGCT MANE Select	NP_203699.1:n.4707-102_4707-92delinsATTAATCGGCT