Canonical Allele Identifier: CA915951331

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 807572
• ClinVar RCV Id: RCV000995733
• dbSNP Id: rs1603290199

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597540_108597545del , CM000685.2:g.108597540_108597545del	GRCh38
NC_000023.10:g.107840770_107840775del , CM000685.1:g.107840770_107840775del	GRCh37
NC_000023.9:g.107727426_107727431del	NCBI36
NG_011977.1:g.162617_162622del
NG_011977.2:g.162617_162622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1751_1756del MANE Select	ENSP00000331902.7:p.Pro584_Gly585del
ENST00000361603.7:c.1751_1756del	ENSP00000354505.2:p.Pro584_Gly585del
ENST00000328300.10:c.1751_1756del	ENSP00000331902.6:p.Pro584_Gly585del
ENST00000361603.6:c.1751_1756del	ENSP00000354505.2:p.Pro584_Gly585del
ENST00000483338.1:n.1207_1212del
NM_000495.4:c.1751_1756del	NP_000486.1:p.Pro584_Gly585del
NM_033380.2:c.1751_1756del	NP_203699.1:p.Pro584_Gly585del
XM_005262070.2:c.1751_1756del	XP_005262127.1:p.Pro584_Gly585del
XM_005262072.3:c.1751_1756del	XP_005262129.1:p.Pro584_Gly585del
XM_006724616.2:c.1751_1756del	XP_006724679.1:p.Pro584_Gly585del
XM_011530849.1:c.1427_1432del	XP_011529151.1:p.Pro476_Gly477del
XM_011530850.1:c.1751_1756del	XP_011529152.1:p.Pro584_Gly585del
XM_011530849.2:c.1766_1771del	XP_011529151.2:p.Pro589_Gly590del
XM_017029259.2:c.1766_1771del	XP_016884748.1:p.Pro589_Gly590del
XM_017029260.1:c.1766_1771del	XP_016884749.1:p.Pro589_Gly590del
XM_017029261.1:c.1766_1771del	XP_016884750.1:p.Pro589_Gly590del
XM_017029262.2:c.1766_1771del	XP_016884751.1:p.Pro589_Gly590del
XM_017029263.2:c.86_91del	XP_016884752.1:p.Pro29_Gly30del
NM_000495.5:c.1751_1756del	NP_000486.1:p.Pro584_Gly585del
NM_033380.3:c.1751_1756del MANE Select	NP_203699.1:p.Pro584_Gly585del