Canonical Allele Identifier: CA16621172
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 419666
ClinVar RCV Id: RCV000478058
dbSNP Id: rs1064794029

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108620258_108620272del , CM000685.2:g.108620258_108620272del GRCh38
NC_000023.10:g.107863488_107863502del , CM000685.1:g.107863488_107863502del GRCh37
NC_000023.9:g.107750144_107750158del NCBI36
NG_011977.1:g.185335_185349del
NG_011977.2:g.185335_185349del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2510-1_2523del
ENST00000361603.7:c.2510-1_2523del
ENST00000328300.10:c.2510-1_2523del
ENST00000361603.6:c.2510-1_2523del
ENST00000483338.1:n.1966-1_1979del
NM_000495.4:c.2510-1_2523del
NM_033380.2:c.2510-1_2523del
XM_005262070.2:c.2510-1_2523del
XM_005262072.3:c.2510-1_2523del
XM_006724616.2:c.2510-1_2523del
XM_011530849.1:c.2186-1_2199del
XM_011530850.1:c.2510-1_2523del
XM_011530851.1:c.83-1_96del
XM_011530849.2:c.2525-1_2538del
XM_017029259.2:c.2525-1_2538del
XM_017029260.1:c.2525-1_2538del
XM_017029261.1:c.2525-1_2538del
XM_017029262.2:c.2525-1_2538del
XM_017029263.2:c.845-1_858del
NM_000495.5:c.2510-1_2523del
NM_033380.3:c.2510-1_2523del