Canonical Allele Identifier: CA1139667750

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 962777
• ClinVar RCV Id: RCV001236698
• dbSNP Id: rs2068660300

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692922_108692928del , CM000685.2:g.108692922_108692928del	GRCh38
NC_000023.10:g.107936152_107936158del , CM000685.1:g.107936152_107936158del	GRCh37
NC_000023.9:g.107822808_107822814del	NCBI36
NG_011977.1:g.257999_258005del
NG_011977.2:g.257999_258005del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4703_4706+3del
ENST00000361603.7:c.4685_4688+3del
ENST00000510690.2:n.1197_1200+3del
ENST00000328300.10:c.4703_4706+3del
ENST00000361603.6:c.4685_4688+3del
ENST00000504541.1:c.101_104+3del
ENST00000515658.1:c.325-3375_325-3369del
NM_000495.4:c.4685_4688+3del
NM_033380.2:c.4703_4706+3del
XM_005262070.2:c.4694_4697+3del
XM_006724616.2:c.4703_4706+3del
XM_011530849.1:c.4379_4382+3del
XM_011530851.1:c.2276_2279+3del
XM_011530849.2:c.4718_4721+3del
XM_017029259.2:c.4709_4712+3del
XM_017029260.1:c.4700_4703+3del
XM_017029263.2:c.3038_3041+3del
NM_000495.5:c.4685_4688+3del
NM_033380.3:c.4703_4706+3del