Canonical Allele Identifier: CA258765
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587295
ClinVar RCV Id: RCV000021445
dbSNP Id: rs104886368

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108622710dup , CM000685.2:g.108622710dup GRCh38
NC_000023.10:g.107865940dup , CM000685.1:g.107865940dup GRCh37
NC_000023.9:g.107752596dup NCBI36
NG_011977.1:g.187787dup
NG_011977.2:g.187787dup

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.2802dup VV
NM_033380.2:c.2802dup VV
XM_005262070.2:c.2802dup
XM_005262072.3:c.2802dup
XM_006724616.2:c.2802dup
XM_011530849.1:c.2478dup
XM_011530850.1:c.2802dup
XM_011530851.1:c.375dup
XM_011530849.2:c.2817dup
XM_017029259.2:c.2817dup
XM_017029260.1:c.2817dup
XM_017029261.1:c.2817dup
XM_017029262.2:c.2817dup
XM_017029263.2:c.1137dup
ENST00000328300.10:c.2802dup
ENST00000361603.6:c.2802dup
ENST00000483338.1:n.2258dup
ENST00000505728.1:n.35dup