Canonical Allele Identifier: CA658823829
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 562443
ClinVar RCV Id: RCV000681923
dbSNP Id: rs1569489348

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108573658_108573661del , CM000685.2:g.108573658_108573661del GRCh38
NC_000023.10:g.107816888_107816891del , CM000685.1:g.107816888_107816891del GRCh37
NC_000023.9:g.107703544_107703547del NCBI36
NG_011977.1:g.138735_138738del
NG_011977.2:g.138735_138738del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.546+4_546+7del
ENST00000361603.7:c.546+4_546+7del
ENST00000328300.10:c.546+4_546+7del
ENST00000361603.6:c.546+4_546+7del
NM_000495.4:c.546+4_546+7del
NM_033380.2:c.546+4_546+7del
XM_005262070.2:c.546+4_546+7del
XM_005262072.3:c.546+4_546+7del
XM_006724616.2:c.546+4_546+7del
XM_011530849.1:c.222+4_222+7del
XM_011530850.1:c.546+4_546+7del
XM_011530849.2:c.561+4_561+7del
XM_017029259.2:c.561+4_561+7del
XM_017029260.1:c.561+4_561+7del
XM_017029261.1:c.561+4_561+7del
XM_017029262.2:c.561+4_561+7del
NM_000495.5:c.546+4_546+7del
NM_033380.3:c.546+4_546+7del