Canonical Allele Identifier: CA913190509

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 623486
• ClinVar RCV Id: RCV000761567
• dbSNP Id: rs1569508360
• gnomAD v4: X-108687554-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687555dup , CM000685.2:g.108687555dup	GRCh38
NC_000023.10:g.107930785dup , CM000685.1:g.107930785dup	GRCh37
NC_000023.9:g.107817441dup	NCBI36
NG_011977.1:g.252632dup
NG_011977.2:g.252632dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4389dup MANE Select	ENSP00000331902.7:p.Val1464CysfsTer28
ENST00000361603.7:c.4371dup	ENSP00000354505.2:p.Val1458CysfsTer28
ENST00000510690.2:n.883dup
ENST00000328300.10:c.4389dup	ENSP00000331902.6:p.Val1464CysfsTer28
ENST00000361603.6:c.4371dup	ENSP00000354505.2:p.Val1458CysfsTer28
ENST00000515658.1:c.185dup
NM_000495.4:c.4371dup	NP_000486.1:p.Val1458CysfsTer28
NM_033380.2:c.4389dup	NP_203699.1:p.Val1464CysfsTer28
XM_005262070.2:c.4380dup	XP_005262127.1:p.Val1461CysfsTer28
XM_006724616.2:c.4389dup	XP_006724679.1:p.Val1464CysfsTer28
XM_011530849.1:c.4065dup	XP_011529151.1:p.Val1356CysfsTer28
XM_011530851.1:c.1962dup	XP_011529153.1:p.Val655CysfsTer28
XM_011530849.2:c.4404dup	XP_011529151.2:p.Val1469CysfsTer28
XM_017029259.2:c.4395dup	XP_016884748.1:p.Val1466CysfsTer28
XM_017029260.1:c.4386dup	XP_016884749.1:p.Val1463CysfsTer28
XM_017029263.2:c.2724dup	XP_016884752.1:p.Val909CysfsTer28
NM_000495.5:c.4371dup	NP_000486.1:p.Val1458CysfsTer28
NM_033380.3:c.4389dup MANE Select	NP_203699.1:p.Val1464CysfsTer28