Canonical Allele Identifier: CA2697544697

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2718589
• ClinVar RCV Id: RCV003551230

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687507del , CM000685.2:g.108687507del	GRCh38
NC_000023.10:g.107930737del , CM000685.1:g.107930737del	GRCh37
NC_000023.9:g.107817393del	NCBI36
NG_011977.1:g.252584del
NG_011977.2:g.252584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4341del MANE Select	ENSP00000331902.7:p.Gly1448ValfsTer?
ENST00000361603.7:c.4323del	ENSP00000354505.2:p.Gly1442ValfsTer?
ENST00000510690.2:n.835del
ENST00000328300.10:c.4341del	ENSP00000331902.6:p.Gly1448ValfsTer?
ENST00000361603.6:c.4323del	ENSP00000354505.2:p.Gly1442ValfsTer?
ENST00000515658.1:c.137del
NM_000495.4:c.4323del	NP_000486.1:p.Gly1442ValfsTer?
NM_033380.2:c.4341del	NP_203699.1:p.Gly1448ValfsTer?
XM_005262070.2:c.4332del	XP_005262127.1:p.Gly1445ValfsTer?
XM_006724616.2:c.4341del	XP_006724679.1:p.Gly1448ValfsTer?
XM_011530849.1:c.4017del	XP_011529151.1:p.Gly1340ValfsTer?
XM_011530851.1:c.1914del	XP_011529153.1:p.Gly639ValfsTer?
XM_011530849.2:c.4356del	XP_011529151.2:p.Gly1453ValfsTer?
XM_017029259.2:c.4347del	XP_016884748.1:p.Gly1450ValfsTer?
XM_017029260.1:c.4338del	XP_016884749.1:p.Gly1447ValfsTer?
XM_017029263.2:c.2676del	XP_016884752.1:p.Gly893ValfsTer?
NM_000495.5:c.4323del	NP_000486.1:p.Gly1442ValfsTer?
NM_033380.3:c.4341del MANE Select	NP_203699.1:p.Gly1448ValfsTer?