Canonical Allele Identifier: CA258261
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587322
ClinVar RCV Id: RCV000021159
dbSNP Id: rs104886058

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108573641del , CM000685.2:g.108573641del GRCh38
NC_000023.10:g.107816871del , CM000685.1:g.107816871del GRCh37
NC_000023.9:g.107703527del NCBI36
NG_011977.1:g.138718del
NG_011977.2:g.138718del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.533del VV NP_000486.1:p.Pro178LeufsTer25
NM_033380.2:c.533del VV NP_203699.1:p.Pro178LeufsTer25
XM_005262070.2:c.533del XP_005262127.1:p.Pro178LeufsTer25
XM_005262072.3:c.533del XP_005262129.1:p.Pro178LeufsTer25
XM_006724616.2:c.533del XP_006724679.1:p.Pro178LeufsTer25
XM_011530849.1:c.209del XP_011529151.1:p.Pro70LeufsTer25
XM_011530850.1:c.533del XP_011529152.1:p.Pro178LeufsTer25
XM_011530849.2:c.548del XP_011529151.2:p.Pro183LeufsTer25
XM_017029259.2:c.548del XP_016884748.1:p.Pro183LeufsTer25
XM_017029260.1:c.548del XP_016884749.1:p.Pro183LeufsTer25
XM_017029261.1:c.548del XP_016884750.1:p.Pro183LeufsTer25
XM_017029262.2:c.548del XP_016884751.1:p.Pro183LeufsTer25
ENST00000328300.10:c.533del ENSP00000331902.6:p.Pro178LeufsTer25
ENST00000361603.6:c.533del ENSP00000354505.2:p.Pro178LeufsTer25