Canonical Allele Identifier: CA2580100163

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1998228
• ClinVar RCV Id: RCV002810312

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687484_108687501dup , CM000685.2:g.108687484_108687501dup	GRCh38
NC_000023.10:g.107930714_107930731dup , CM000685.1:g.107930714_107930731dup	GRCh37
NC_000023.9:g.107817370_107817387dup	NCBI36
NG_011977.1:g.252561_252578dup
NG_011977.2:g.252561_252578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4318_4335dup
ENST00000361603.7:c.4300_4317dup
ENST00000510690.2:n.812_829dup
ENST00000328300.10:c.4318_4335dup
ENST00000361603.6:c.4300_4317dup
ENST00000515658.1:c.114_131dup
NM_000495.4:c.4300_4317dup
NM_033380.2:c.4318_4335dup
XM_005262070.2:c.4309_4326dup
XM_006724616.2:c.4318_4335dup
XM_011530849.1:c.3994_4011dup
XM_011530851.1:c.1891_1908dup
XM_011530849.2:c.4333_4350dup
XM_017029259.2:c.4324_4341dup
XM_017029260.1:c.4315_4332dup
XM_017029263.2:c.2653_2670dup
NM_000495.5:c.4300_4317dup
NM_033380.3:c.4318_4335dup