Canonical Allele Identifier: CA258224
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587317
ClinVar RCV Id: RCV000021137
dbSNP Id: rs104886045

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108568645del , CM000685.2:g.108568645del GRCh38
NC_000023.10:g.107811875del , CM000685.1:g.107811875del GRCh37
NC_000023.9:g.107698531del NCBI36
NG_011977.1:g.133722del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.293del VV NP_000486.1:p.Pro98LeufsTer?
NM_033380.2:c.293del VV NP_203699.1:p.Pro98LeufsTer?
XM_005262070.2:c.293del XP_005262127.1:p.Pro98LeufsTer?
XM_005262072.3:c.293del XP_005262129.1:p.Pro98LeufsTer?
XM_006724616.2:c.293del XP_006724679.1:p.Pro98LeufsTer?
XM_011530849.1:c.-32del XP_011529151.1:p.=
XM_011530850.1:c.293del XP_011529152.1:p.Pro98LeufsTer?
XM_011530849.2:c.308del XP_011529151.2:p.Pro103LeufsTer?
XM_017029259.2:c.308del XP_016884748.1:p.Pro103LeufsTer?
XM_017029260.1:c.308del XP_016884749.1:p.Pro103LeufsTer?
XM_017029261.1:c.308del XP_016884750.1:p.Pro103LeufsTer?
XM_017029262.2:c.308del XP_016884751.1:p.Pro103LeufsTer?
ENST00000328300.10:c.293del ENSP00000331902.6:p.Pro98LeufsTer?
ENST00000361603.6:c.293del ENSP00000354505.2:p.Pro98LeufsTer?
ENST00000470339.1:n.477del