Canonical Allele Identifier: CA658799836

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 523544
• ClinVar RCV Id: RCV000626978
• dbSNP Id: rs1556411578
• MyVariant Identifiers: chrX:g.107838737_107838745del (hg19) ; chrX:g.108595507_108595515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108595515_108595523del , CM000685.2:g.108595515_108595523del	GRCh38
NC_000023.10:g.107838745_107838753del , CM000685.1:g.107838745_107838753del	GRCh37
NC_000023.9:g.107725401_107725409del	NCBI36
NG_011977.1:g.160592_160600del
NG_011977.2:g.160592_160600del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1430_1438del
ENST00000361603.7:c.1430_1438del
ENST00000328300.10:c.1430_1438del
ENST00000361603.6:c.1430_1438del
ENST00000483338.1:n.886_894del
NM_000495.4:c.1430_1438del
NM_033380.2:c.1430_1438del
XM_005262070.2:c.1430_1438del
XM_005262072.3:c.1430_1438del
XM_006724616.2:c.1430_1438del
XM_011530849.1:c.1106_1114del
XM_011530850.1:c.1430_1438del
XM_011530849.2:c.1445_1453del
XM_017029259.2:c.1445_1453del
XM_017029260.1:c.1445_1453del
XM_017029261.1:c.1445_1453del
XM_017029262.2:c.1445_1453del
XM_017029263.2:c.-236_-228del
NM_000495.5:c.1430_1438del
NM_033380.3:c.1430_1438del