Canonical Allele Identifier: CA258299
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24305
ClinVar RCV Id: RCV000021183
dbSNP Id: rs104886436

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108578066_108578067del , CM000685.2:g.108578066_108578067del GRCh38
NC_000023.9:g.107707952_107707953del NCBI36
NC_000023.10:g.107821296_107821297del , CM000685.1:g.107821296_107821297del GRCh37
NG_011977.1:g.143143_143144del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.646-12_646-11del ENSP00000331902.6:p.=
ENST00000361603.6:c.646-12_646-11del ENSP00000354505.2:p.=
NM_000495.4:c.646-12_646-11del VV NP_000486.1:p.=
NM_033380.2:c.646-12_646-11del VV NP_203699.1:p.=
XM_005262070.2:c.646-12_646-11del XP_005262127.1:p.=
XM_005262072.3:c.646-12_646-11del XP_005262129.1:p.=
XM_006724616.2:c.646-12_646-11del XP_006724679.1:p.=
XM_011530849.1:c.322-12_322-11del XP_011529151.1:p.=
XM_011530850.1:c.646-12_646-11del XP_011529152.1:p.=