Canonical Allele Identifier: CA10581302
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 235408
ClinVar RCV Id: RCV000224452
dbSNP Id: rs878853030
MyVariant Identifiers: chrX:g.107935998del (hg19) chrX:g.108692768del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108692768del , CM000685.2:g.108692768del GRCh38
NC_000023.10:g.107935998del , CM000685.1:g.107935998del GRCh37
NC_000023.9:g.107822654del NCBI36
NG_011977.1:g.257845del
NG_011977.2:g.257845del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4549del MANE Select ENSP00000331902.7:p.Arg1517ValfsTer?
ENST00000361603.7:c.4531del ENSP00000354505.2:p.Arg1511ValfsTer?
ENST00000510690.2:n.1043del
ENST00000328300.10:c.4549del ENSP00000331902.6:p.Arg1517ValfsTer?
ENST00000361603.6:c.4531del ENSP00000354505.2:p.Arg1511ValfsTer?
ENST00000515658.1:c.325-3529del
NM_000495.4:c.4531del NP_000486.1:p.Arg1511ValfsTer?
NM_033380.2:c.4549del NP_203699.1:p.Arg1517ValfsTer?
XM_005262070.2:c.4540del XP_005262127.1:p.Arg1514ValfsTer?
XM_006724616.2:c.4549del XP_006724679.1:p.Arg1517ValfsTer?
XM_011530849.1:c.4225del XP_011529151.1:p.Arg1409ValfsTer?
XM_011530851.1:c.2122del XP_011529153.1:p.Arg708ValfsTer?
XM_011530849.2:c.4564del XP_011529151.2:p.Arg1522ValfsTer?
XM_017029259.2:c.4555del XP_016884748.1:p.Arg1519ValfsTer?
XM_017029260.1:c.4546del XP_016884749.1:p.Arg1516ValfsTer?
XM_017029263.2:c.2884del XP_016884752.1:p.Arg962ValfsTer?
NM_000495.5:c.4531del NP_000486.1:p.Arg1511ValfsTer?
NM_033380.3:c.4549del MANE Select NP_203699.1:p.Arg1517ValfsTer?
Search 100 bp 5'
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