Canonical Allele Identifier: CA2573159110

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1482498
• ClinVar RCV Id: RCV001995654
• dbSNP Id: rs2147991408

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687581_108687582delinsCT , CM000685.2:g.108687581_108687582delinsCT	GRCh38
NC_000023.10:g.107930811_107930812delinsCT , CM000685.1:g.107930811_107930812delinsCT	GRCh37
NC_000023.9:g.107817467_107817468delinsCT	NCBI36
NG_011977.1:g.252658_252659delinsCT
NG_011977.2:g.252658_252659delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4415_4416delinsCT MANE Select	ENSP00000331902.7:p.Arg1472Pro
ENST00000361603.7:c.4397_4398delinsCT	ENSP00000354505.2:p.Arg1466Pro
ENST00000510690.2:n.909_910delinsCT
ENST00000328300.10:c.4415_4416delinsCT	ENSP00000331902.6:p.Arg1472Pro
ENST00000361603.6:c.4397_4398delinsCT	ENSP00000354505.2:p.Arg1466Pro
ENST00000515658.1:c.211_212delinsCT
NM_000495.4:c.4397_4398delinsCT	NP_000486.1:p.Arg1466Pro
NM_033380.2:c.4415_4416delinsCT	NP_203699.1:p.Arg1472Pro
XM_005262070.2:c.4406_4407delinsCT	XP_005262127.1:p.Arg1469Pro
XM_006724616.2:c.4415_4416delinsCT	XP_006724679.1:p.Arg1472Pro
XM_011530849.1:c.4091_4092delinsCT	XP_011529151.1:p.Arg1364Pro
XM_011530851.1:c.1988_1989delinsCT	XP_011529153.1:p.Arg663Pro
XM_011530849.2:c.4430_4431delinsCT	XP_011529151.2:p.Arg1477Pro
XM_017029259.2:c.4421_4422delinsCT	XP_016884748.1:p.Arg1474Pro
XM_017029260.1:c.4412_4413delinsCT	XP_016884749.1:p.Arg1471Pro
XM_017029263.2:c.2750_2751delinsCT	XP_016884752.1:p.Arg917Pro
NM_000495.5:c.4397_4398delinsCT	NP_000486.1:p.Arg1466Pro
NM_033380.3:c.4415_4416delinsCT MANE Select	NP_203699.1:p.Arg1472Pro