Canonical Allele Identifier: CA2573159166

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1576406
• ClinVar RCV Id: RCV002078337
• dbSNP Id: rs2147734943

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108563933_108563934delinsGC , CM000685.2:g.108563933_108563934delinsGC	GRCh38
NC_000023.10:g.107807163_107807164delinsGC , CM000685.1:g.107807163_107807164delinsGC	GRCh37
NC_000023.9:g.107693819_107693820delinsGC	NCBI36
NG_011977.1:g.129010_129011delinsGC
NG_011977.2:g.129010_129011delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.276+7_276+8delinsGC MANE Select	ENSP00000331902.7:n.276+7_276+8delinsGC
ENST00000361603.7:c.276+7_276+8delinsGC	ENSP00000354505.2:n.276+7_276+8delinsGC
ENST00000328300.10:c.276+7_276+8delinsGC	ENSP00000331902.6:n.276+7_276+8delinsGC
ENST00000361603.6:c.276+7_276+8delinsGC	ENSP00000354505.2:n.276+7_276+8delinsGC
ENST00000470339.1:n.460+7_460+8delinsGC
NM_000495.4:c.276+7_276+8delinsGC	NP_000486.1:n.276+7_276+8delinsGC
NM_033380.2:c.276+7_276+8delinsGC	NP_203699.1:n.276+7_276+8delinsGC
XM_005262070.2:c.276+7_276+8delinsGC	XP_005262127.1:n.276+7_276+8delinsGC
XM_005262072.3:c.276+7_276+8delinsGC	XP_005262129.1:n.276+7_276+8delinsGC
XM_006724616.2:c.276+7_276+8delinsGC	XP_006724679.1:n.276+7_276+8delinsGC
XM_011530849.1:c.-49+7_-49+8delinsGC	XP_011529151.1:n.-49+7_-49+8delinsGC
XM_011530850.1:c.276+7_276+8delinsGC	XP_011529152.1:n.276+7_276+8delinsGC
XM_011530849.2:c.291+7_291+8delinsGC	XP_011529151.2:n.291+7_291+8delinsGC
XM_017029259.2:c.291+7_291+8delinsGC	XP_016884748.1:n.291+7_291+8delinsGC
XM_017029260.1:c.291+7_291+8delinsGC	XP_016884749.1:n.291+7_291+8delinsGC
XM_017029261.1:c.291+7_291+8delinsGC	XP_016884750.1:n.291+7_291+8delinsGC
XM_017029262.2:c.291+7_291+8delinsGC	XP_016884751.1:n.291+7_291+8delinsGC
NM_000495.5:c.276+7_276+8delinsGC	NP_000486.1:n.276+7_276+8delinsGC
NM_033380.3:c.276+7_276+8delinsGC MANE Select	NP_203699.1:n.276+7_276+8delinsGC