Canonical Allele Identifier: CA258340
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs281874767
MyVariant Identifiers: chrX:g.107823950del (hg19) chrX:g.108580720del (hg38)
PubMed: PMID:20378821
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108580720del , CM000685.2:g.108580720del GRCh38
NC_000023.10:g.107823950del , CM000685.1:g.107823950del GRCh37
NC_000023.9:g.107710606del NCBI36
NG_011977.1:g.145797del
NG_011977.2:g.145797del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.873del MANE Select ENSP00000331902.7:p.Gly292GlufsTer?
ENST00000361603.7:c.873del ENSP00000354505.2:p.Gly292GlufsTer?
ENST00000328300.10:c.873del ENSP00000331902.6:p.Gly292GlufsTer?
ENST00000361603.6:c.873del ENSP00000354505.2:p.Gly292GlufsTer?
NM_000495.4:c.873del NP_000486.1:p.Gly292GlufsTer?
NM_033380.2:c.873del NP_203699.1:p.Gly292GlufsTer?
XM_005262070.2:c.873del XP_005262127.1:p.Gly292GlufsTer?
XM_005262072.3:c.873del XP_005262129.1:p.Gly292GlufsTer?
XM_006724616.2:c.873del XP_006724679.1:p.Gly292GlufsTer?
XM_011530849.1:c.549del XP_011529151.1:p.Gly184GlufsTer?
XM_011530850.1:c.873del XP_011529152.1:p.Gly292GlufsTer?
XM_011530849.2:c.888del XP_011529151.2:p.Gly297GlufsTer?
XM_017029259.2:c.888del XP_016884748.1:p.Gly297GlufsTer?
XM_017029260.1:c.888del XP_016884749.1:p.Gly297GlufsTer?
XM_017029261.1:c.888del XP_016884750.1:p.Gly297GlufsTer?
XM_017029262.2:c.888del XP_016884751.1:p.Gly297GlufsTer?
NM_000495.5:c.873del NP_000486.1:p.Gly292GlufsTer?
NM_033380.3:c.873del MANE Select NP_203699.1:p.Gly292GlufsTer?
Search 100 bp 5'
Search 100 bp 3'