Canonical Allele Identifier: CA2580100168

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1724991
• ClinVar RCV Id: RCV002308050

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687544_108687545insA , CM000685.2:g.108687544_108687545insA	GRCh38
NC_000023.10:g.107930774_107930775insA , CM000685.1:g.107930774_107930775insA	GRCh37
NC_000023.9:g.107817430_107817431insA	NCBI36
NG_011977.1:g.252621_252622insA
NG_011977.2:g.252621_252622insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4378_4379insA MANE Select	ENSP00000331902.7:p.Gly1460GlufsTer?
ENST00000361603.7:c.4360_4361insA	ENSP00000354505.2:p.Gly1454GlufsTer?
ENST00000510690.2:n.872_873insA
ENST00000328300.10:c.4378_4379insA	ENSP00000331902.6:p.Gly1460GlufsTer?
ENST00000361603.6:c.4360_4361insA	ENSP00000354505.2:p.Gly1454GlufsTer?
ENST00000515658.1:c.174_175insA
NM_000495.4:c.4360_4361insA	NP_000486.1:p.Gly1454GlufsTer?
NM_033380.2:c.4378_4379insA	NP_203699.1:p.Gly1460GlufsTer?
XM_005262070.2:c.4369_4370insA	XP_005262127.1:p.Gly1457GlufsTer?
XM_006724616.2:c.4378_4379insA	XP_006724679.1:p.Gly1460GlufsTer?
XM_011530849.1:c.4054_4055insA	XP_011529151.1:p.Gly1352GlufsTer?
XM_011530851.1:c.1951_1952insA	XP_011529153.1:p.Gly651GlufsTer?
XM_011530849.2:c.4393_4394insA	XP_011529151.2:p.Gly1465GlufsTer?
XM_017029259.2:c.4384_4385insA	XP_016884748.1:p.Gly1462GlufsTer?
XM_017029260.1:c.4375_4376insA	XP_016884749.1:p.Gly1459GlufsTer?
XM_017029263.2:c.2713_2714insA	XP_016884752.1:p.Gly905GlufsTer?
NM_000495.5:c.4360_4361insA	NP_000486.1:p.Gly1454GlufsTer?
NM_033380.3:c.4378_4379insA MANE Select	NP_203699.1:p.Gly1460GlufsTer?