Canonical Allele Identifier: CA2450688401

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 988184
• ClinVar RCV Id: RCV001328191
• dbSNP Id: rs2066542728

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597552_108597571del , CM000685.2:g.108597552_108597571del	GRCh38
NC_000023.10:g.107840782_107840801del , CM000685.1:g.107840782_107840801del	GRCh37
NC_000023.9:g.107727438_107727457del	NCBI36
NG_011977.1:g.162629_162648del
NG_011977.2:g.162629_162648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1763_1779+3del
ENST00000361603.7:c.1763_1779+3del
ENST00000328300.10:c.1763_1779+3del
ENST00000361603.6:c.1763_1779+3del
ENST00000483338.1:n.1219_1235+3del
NM_000495.4:c.1763_1779+3del
NM_033380.2:c.1763_1779+3del
XM_005262070.2:c.1763_1779+3del
XM_005262072.3:c.1763_1779+3del
XM_006724616.2:c.1763_1779+3del
XM_011530849.1:c.1439_1455+3del
XM_011530850.1:c.1763_1779+3del
XM_011530849.2:c.1778_1794+3del
XM_017029259.2:c.1778_1794+3del
XM_017029260.1:c.1778_1794+3del
XM_017029261.1:c.1778_1794+3del
XM_017029262.2:c.1778_1794+3del
XM_017029263.2:c.98_114+3del
NM_000495.5:c.1763_1779+3del
NM_033380.3:c.1763_1779+3del