Canonical Allele Identifier: CA2499226319

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1066648
• ClinVar RCV Id: RCV001377698
• dbSNP Id: rs2147859764

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108620258_108620263del , CM000685.2:g.108620258_108620263del	GRCh38
NC_000023.10:g.107863488_107863493del , CM000685.1:g.107863488_107863493del	GRCh37
NC_000023.9:g.107750144_107750149del	NCBI36
NG_011977.1:g.185335_185340del
NG_011977.2:g.185335_185340del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2510-1_2514del
ENST00000361603.7:c.2510-1_2514del
ENST00000328300.10:c.2510-1_2514del
ENST00000361603.6:c.2510-1_2514del
ENST00000483338.1:n.1966-1_1970del
NM_000495.4:c.2510-1_2514del
NM_033380.2:c.2510-1_2514del
XM_005262070.2:c.2510-1_2514del
XM_005262072.3:c.2510-1_2514del
XM_006724616.2:c.2510-1_2514del
XM_011530849.1:c.2186-1_2190del
XM_011530850.1:c.2510-1_2514del
XM_011530851.1:c.83-1_87del
XM_011530849.2:c.2525-1_2529del
XM_017029259.2:c.2525-1_2529del
XM_017029260.1:c.2525-1_2529del
XM_017029261.1:c.2525-1_2529del
XM_017029262.2:c.2525-1_2529del
XM_017029263.2:c.845-1_849del
NM_000495.5:c.2510-1_2514del
NM_033380.3:c.2510-1_2514del