Canonical Allele Identifier: CA2450677747

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 988116
• ClinVar RCV Id: RCV001328074
• dbSNP Id: rs2065934135

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108563928dup , CM000685.2:g.108563928dup	GRCh38
NC_000023.10:g.107807158dup , CM000685.1:g.107807158dup	GRCh37
NC_000023.9:g.107693814dup	NCBI36
NG_011977.1:g.129005dup
NG_011977.2:g.129005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.276+2dup MANE Select	ENSP00000331902.7:n.276+2dup
ENST00000361603.7:c.276+2dup	ENSP00000354505.2:n.276+2dup
ENST00000328300.10:c.276+2dup	ENSP00000331902.6:n.276+2dup
ENST00000361603.6:c.276+2dup	ENSP00000354505.2:n.276+2dup
ENST00000470339.1:n.460+2dup
NM_000495.4:c.276+2dup	NP_000486.1:n.276+2dup
NM_033380.2:c.276+2dup	NP_203699.1:n.276+2dup
XM_005262070.2:c.276+2dup	XP_005262127.1:n.276+2dup
XM_005262072.3:c.276+2dup	XP_005262129.1:n.276+2dup
XM_006724616.2:c.276+2dup	XP_006724679.1:n.276+2dup
XM_011530849.1:c.-49+2dup	XP_011529151.1:n.-49+2dup
XM_011530850.1:c.276+2dup	XP_011529152.1:n.276+2dup
XM_011530849.2:c.291+2dup	XP_011529151.2:n.291+2dup
XM_017029259.2:c.291+2dup	XP_016884748.1:n.291+2dup
XM_017029260.1:c.291+2dup	XP_016884749.1:n.291+2dup
XM_017029261.1:c.291+2dup	XP_016884750.1:n.291+2dup
XM_017029262.2:c.291+2dup	XP_016884751.1:n.291+2dup
NM_000495.5:c.276+2dup	NP_000486.1:n.276+2dup
NM_033380.3:c.276+2dup MANE Select	NP_203699.1:n.276+2dup