Canonical Allele Identifier: CA258273
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587324
ClinVar RCV Id: RCV000021168
dbSNP Id: rs104886433

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108575913dup , CM000685.2:g.108575913dup GRCh38
NC_000023.9:g.107705799dup NCBI36
NC_000023.10:g.107819143dup , CM000685.1:g.107819143dup GRCh37
NG_011977.1:g.140990dup

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.550dup ENSP00000331902.6:p.Leu184ProfsTer?
ENST00000361603.6:c.550dup ENSP00000354505.2:p.Leu184ProfsTer?
NM_000495.4:c.550dup VV NP_000486.1:p.Leu184ProfsTer?
NM_033380.2:c.550dup VV NP_203699.1:p.Leu184ProfsTer?
XM_005262070.2:c.550dup XP_005262127.1:p.Leu184ProfsTer?
XM_005262072.3:c.550dup XP_005262129.1:p.Leu184ProfsTer?
XM_006724616.2:c.550dup XP_006724679.1:p.Leu184ProfsTer?
XM_011530849.1:c.226dup XP_011529151.1:p.Leu76ProfsTer?
XM_011530850.1:c.550dup XP_011529152.1:p.Leu184ProfsTer?
XM_011530849.2:c.565dup XP_011529151.2:p.Leu189ProfsTer?
XM_017029259.2:c.565dup XP_016884748.1:p.Leu189ProfsTer?
XM_017029260.1:c.565dup XP_016884749.1:p.Leu189ProfsTer?
XM_017029261.1:c.565dup XP_016884750.1:p.Leu189ProfsTer?
XM_017029262.2:c.565dup XP_016884751.1:p.Leu189ProfsTer?