Canonical Allele Identifier: CA2697544713

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2709046
• ClinVar RCV Id: RCV003547808

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597462_108597471del , CM000685.2:g.108597462_108597471del	GRCh38
NC_000023.10:g.107840692_107840701del , CM000685.1:g.107840692_107840701del	GRCh37
NC_000023.9:g.107727348_107727357del	NCBI36
NG_011977.1:g.162539_162548del
NG_011977.2:g.162539_162548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1673_1682del MANE Select	ENSP00000331902.7:p.Gly558GlufsTer?
ENST00000361603.7:c.1673_1682del	ENSP00000354505.2:p.Gly558GlufsTer?
ENST00000328300.10:c.1673_1682del	ENSP00000331902.6:p.Gly558GlufsTer?
ENST00000361603.6:c.1673_1682del	ENSP00000354505.2:p.Gly558GlufsTer?
ENST00000483338.1:n.1129_1138del
NM_000495.4:c.1673_1682del	NP_000486.1:p.Gly558GlufsTer?
NM_033380.2:c.1673_1682del	NP_203699.1:p.Gly558GlufsTer?
XM_005262070.2:c.1673_1682del	XP_005262127.1:p.Gly558GlufsTer?
XM_005262072.3:c.1673_1682del	XP_005262129.1:p.Gly558GlufsTer?
XM_006724616.2:c.1673_1682del	XP_006724679.1:p.Gly558GlufsTer?
XM_011530849.1:c.1349_1358del	XP_011529151.1:p.Gly450GlufsTer?
XM_011530850.1:c.1673_1682del	XP_011529152.1:p.Gly558GlufsTer?
XM_011530849.2:c.1688_1697del	XP_011529151.2:p.Gly563GlufsTer?
XM_017029259.2:c.1688_1697del	XP_016884748.1:p.Gly563GlufsTer?
XM_017029260.1:c.1688_1697del	XP_016884749.1:p.Gly563GlufsTer?
XM_017029261.1:c.1688_1697del	XP_016884750.1:p.Gly563GlufsTer?
XM_017029262.2:c.1688_1697del	XP_016884751.1:p.Gly563GlufsTer?
XM_017029263.2:c.8_17del	XP_016884752.1:p.Gly3GlufsTer?
NM_000495.5:c.1673_1682del	NP_000486.1:p.Gly558GlufsTer?
NM_033380.3:c.1673_1682del MANE Select	NP_203699.1:p.Gly558GlufsTer?