Canonical Allele Identifier: CA258229
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587318
ClinVar RCV Id: RCV000021140
dbSNP Id: rs104886046

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108568805del , CM000685.2:g.108568805del GRCh38
NC_000023.10:g.107812035del , CM000685.1:g.107812035del GRCh37
NC_000023.9:g.107698691del NCBI36
NG_011977.1:g.133882del
NG_011977.2:g.133882del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.368del VV NP_000486.1:p.Gly123AspfsTer?
NM_033380.2:c.368del VV NP_203699.1:p.Gly123AspfsTer?
XM_005262070.2:c.368del XP_005262127.1:p.Gly123AspfsTer?
XM_005262072.3:c.368del XP_005262129.1:p.Gly123AspfsTer?
XM_006724616.2:c.368del XP_006724679.1:p.Gly123AspfsTer?
XM_011530849.1:c.44del XP_011529151.1:p.Gly15AspfsTer?
XM_011530850.1:c.368del XP_011529152.1:p.Gly123AspfsTer?
XM_011530849.2:c.383del XP_011529151.2:p.Gly128AspfsTer?
XM_017029259.2:c.383del XP_016884748.1:p.Gly128AspfsTer?
XM_017029260.1:c.383del XP_016884749.1:p.Gly128AspfsTer?
XM_017029261.1:c.383del XP_016884750.1:p.Gly128AspfsTer?
XM_017029262.2:c.383del XP_016884751.1:p.Gly128AspfsTer?
ENST00000328300.10:c.368del ENSP00000331902.6:p.Gly123AspfsTer?
ENST00000361603.6:c.368del ENSP00000354505.2:p.Gly123AspfsTer?
ENST00000470339.1:n.552del