Canonical Allele Identifier: CA2573159112

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1348515
• ClinVar RCV Id: RCV002033386
• dbSNP Id: rs2147810566

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597566_108597573del , CM000685.2:g.108597566_108597573del	GRCh38
NC_000023.10:g.107840796_107840803del , CM000685.1:g.107840796_107840803del	GRCh37
NC_000023.9:g.107727452_107727459del	NCBI36
NG_011977.1:g.162643_162650del
NG_011977.2:g.162643_162650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1777_1779+5del
ENST00000361603.7:c.1777_1779+5del
ENST00000328300.10:c.1777_1779+5del
ENST00000361603.6:c.1777_1779+5del
ENST00000483338.1:n.1233_1235+5del
NM_000495.4:c.1777_1779+5del
NM_033380.2:c.1777_1779+5del
XM_005262070.2:c.1777_1779+5del
XM_005262072.3:c.1777_1779+5del
XM_006724616.2:c.1777_1779+5del
XM_011530849.1:c.1453_1455+5del
XM_011530850.1:c.1777_1779+5del
XM_011530849.2:c.1792_1794+5del
XM_017029259.2:c.1792_1794+5del
XM_017029260.1:c.1792_1794+5del
XM_017029261.1:c.1792_1794+5del
XM_017029262.2:c.1792_1794+5del
XM_017029263.2:c.112_114+5del
NM_000495.5:c.1777_1779+5del
NM_033380.3:c.1777_1779+5del