Canonical Allele Identifier: CA258594
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24473
ClinVar RCV Id: RCV000021352
dbSNP Id: rs104886156

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108601462del , CM000685.2:g.108601462del GRCh38
NC_000023.10:g.107844692del , CM000685.1:g.107844692del GRCh37
NC_000023.9:g.107731348del NCBI36
NG_011977.1:g.166539del
NG_011977.2:g.166539del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.2018del VV NP_000486.1:p.Arg673LysfsTer5
NM_033380.2:c.2018del VV NP_203699.1:p.Arg673LysfsTer5
XM_005262070.2:c.2018del XP_005262127.1:p.Arg673LysfsTer5
XM_005262072.3:c.2018del XP_005262129.1:p.Arg673LysfsTer5
XM_006724616.2:c.2018del XP_006724679.1:p.Arg673LysfsTer5
XM_011530849.1:c.1694del XP_011529151.1:p.Arg565LysfsTer5
XM_011530850.1:c.2018del XP_011529152.1:p.Arg673LysfsTer5
XM_011530849.2:c.2033del XP_011529151.2:p.Arg678LysfsTer5
XM_017029259.2:c.2033del XP_016884748.1:p.Arg678LysfsTer5
XM_017029260.1:c.2033del XP_016884749.1:p.Arg678LysfsTer5
XM_017029261.1:c.2033del XP_016884750.1:p.Arg678LysfsTer5
XM_017029262.2:c.2033del XP_016884751.1:p.Arg678LysfsTer5
XM_017029263.2:c.353del XP_016884752.1:p.Arg118LysfsTer5
ENST00000328300.10:c.2018del ENSP00000331902.6:p.Arg673LysfsTer5
ENST00000361603.6:c.2018del ENSP00000354505.2:p.Arg673LysfsTer5
ENST00000483338.1:n.1474del