Canonical Allele Identifier: CA258251
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587321
ClinVar RCV Id: RCV000021152
dbSNP Id: rs104886054

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108571818del , CM000685.2:g.108571818del GRCh38
NC_000023.10:g.107815048del , CM000685.1:g.107815048del GRCh37
NC_000023.9:g.107701704del NCBI36
NG_011977.1:g.136895del
NG_011977.2:g.136895del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.446del VV NP_000486.1:p.Pro149LeufsTer6
NM_033380.2:c.446del VV NP_203699.1:p.Pro149LeufsTer6
XM_005262070.2:c.446del XP_005262127.1:p.Pro149LeufsTer6
XM_005262072.3:c.446del XP_005262129.1:p.Pro149LeufsTer6
XM_006724616.2:c.446del XP_006724679.1:p.Pro149LeufsTer6
XM_011530849.1:c.122del XP_011529151.1:p.Pro41LeufsTer6
XM_011530850.1:c.446del XP_011529152.1:p.Pro149LeufsTer6
XM_011530849.2:c.461del XP_011529151.2:p.Pro154LeufsTer6
XM_017029259.2:c.461del XP_016884748.1:p.Pro154LeufsTer6
XM_017029260.1:c.461del XP_016884749.1:p.Pro154LeufsTer6
XM_017029261.1:c.461del XP_016884750.1:p.Pro154LeufsTer6
XM_017029262.2:c.461del XP_016884751.1:p.Pro154LeufsTer6
ENST00000328300.10:c.446del ENSP00000331902.6:p.Pro149LeufsTer6
ENST00000361603.6:c.446del ENSP00000354505.2:p.Pro149LeufsTer6