Canonical Allele Identifier: CA915951309

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 829905
• ClinVar RCV Id: RCV001029852
• dbSNP Id: rs1603318143

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681869del , CM000685.2:g.108681869del	GRCh38
NC_000023.10:g.107925099del , CM000685.1:g.107925099del	GRCh37
NC_000023.9:g.107811755del	NCBI36
NG_011977.1:g.246946del
NG_011977.2:g.246946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4197del MANE Select	ENSP00000331902.7:p.Gly1400AspfsTer?
ENST00000361603.7:c.4179del	ENSP00000354505.2:p.Gly1394AspfsTer?
ENST00000510690.2:n.691del
ENST00000328300.10:c.4197del	ENSP00000331902.6:p.Gly1400AspfsTer?
ENST00000361603.6:c.4179del	ENSP00000354505.2:p.Gly1394AspfsTer?
ENST00000489230.1:n.600del
NM_000495.4:c.4179del	NP_000486.1:p.Gly1394AspfsTer?
NM_033380.2:c.4197del	NP_203699.1:p.Gly1400AspfsTer?
XM_005262070.2:c.4188del	XP_005262127.1:p.Gly1397AspfsTer?
XM_006724616.2:c.4197del	XP_006724679.1:p.Gly1400AspfsTer?
XM_011530849.1:c.3873del	XP_011529151.1:p.Gly1292AspfsTer?
XM_011530851.1:c.1770del	XP_011529153.1:p.Gly591AspfsTer?
XM_011530849.2:c.4212del	XP_011529151.2:p.Gly1405AspfsTer?
XM_017029259.2:c.4203del	XP_016884748.1:p.Gly1402AspfsTer?
XM_017029260.1:c.4194del	XP_016884749.1:p.Gly1399AspfsTer?
XM_017029263.2:c.2532del	XP_016884752.1:p.Gly845AspfsTer?
NM_000495.5:c.4179del	NP_000486.1:p.Gly1394AspfsTer?
NM_033380.3:c.4197del MANE Select	NP_203699.1:p.Gly1400AspfsTer?