Canonical Allele Identifier: CA2499226303

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1134148
• ClinVar RCV Id: RCV001468979
• dbSNP Id: rs2147776823

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108580746_108580754del , CM000685.2:g.108580746_108580754del	GRCh38
NC_000023.10:g.107823976_107823984del , CM000685.1:g.107823976_107823984del	GRCh37
NC_000023.9:g.107710632_107710640del	NCBI36
NG_011977.1:g.145823_145831del
NG_011977.2:g.145823_145831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.891+8_891+16del MANE Select	ENSP00000331902.7:n.891+8_891+16del
ENST00000361603.7:c.891+8_891+16del	ENSP00000354505.2:n.891+8_891+16del
ENST00000328300.10:c.891+8_891+16del	ENSP00000331902.6:n.891+8_891+16del
ENST00000361603.6:c.891+8_891+16del	ENSP00000354505.2:n.891+8_891+16del
NM_000495.4:c.891+8_891+16del	NP_000486.1:n.891+8_891+16del
NM_033380.2:c.891+8_891+16del	NP_203699.1:n.891+8_891+16del
XM_005262070.2:c.891+8_891+16del	XP_005262127.1:n.891+8_891+16del
XM_005262072.3:c.891+8_891+16del	XP_005262129.1:n.891+8_891+16del
XM_006724616.2:c.891+8_891+16del	XP_006724679.1:n.891+8_891+16del
XM_011530849.1:c.567+8_567+16del	XP_011529151.1:n.567+8_567+16del
XM_011530850.1:c.891+8_891+16del	XP_011529152.1:n.891+8_891+16del
XM_011530849.2:c.906+8_906+16del	XP_011529151.2:n.906+8_906+16del
XM_017029259.2:c.906+8_906+16del	XP_016884748.1:n.906+8_906+16del
XM_017029260.1:c.906+8_906+16del	XP_016884749.1:n.906+8_906+16del
XM_017029261.1:c.906+8_906+16del	XP_016884750.1:n.906+8_906+16del
XM_017029262.2:c.906+8_906+16del	XP_016884751.1:n.906+8_906+16del
NM_000495.5:c.891+8_891+16del	NP_000486.1:n.891+8_891+16del
NM_033380.3:c.891+8_891+16del MANE Select	NP_203699.1:n.891+8_891+16del