Canonical Allele Identifier: CA258873
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886234
MyVariant Identifiers: chrX:g.107909745del (hg19) chrX:g.108666515del (hg38)
PubMed: PMID:11462238
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108666515del , CM000685.2:g.108666515del GRCh38
NC_000023.10:g.107909745del , CM000685.1:g.107909745del GRCh37
NC_000023.9:g.107796401del NCBI36
NG_011977.1:g.231592del
NG_011977.2:g.231592del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3474del MANE Select ENSP00000331902.7:p.Gln1159AsnfsTer?
ENST00000361603.7:c.3474del ENSP00000354505.2:p.Gln1159AsnfsTer?
ENST00000328300.10:c.3474del ENSP00000331902.6:p.Gln1159AsnfsTer?
ENST00000361603.6:c.3474del ENSP00000354505.2:p.Gln1159AsnfsTer?
NM_000495.4:c.3474del NP_000486.1:p.Gln1159AsnfsTer?
NM_033380.2:c.3474del NP_203699.1:p.Gln1159AsnfsTer?
XM_005262070.2:c.3474del XP_005262127.1:p.Gln1159AsnfsTer?
XM_006724616.2:c.3474del XP_006724679.1:p.Gln1159AsnfsTer?
XM_011530849.1:c.3150del XP_011529151.1:p.Gln1051AsnfsTer?
XM_011530850.1:c.3474del XP_011529152.1:p.Gln1159AsnfsTer?
XM_011530851.1:c.1047del XP_011529153.1:p.Gln350AsnfsTer?
XM_011530849.2:c.3489del XP_011529151.2:p.Gln1164AsnfsTer?
XM_017029259.2:c.3489del XP_016884748.1:p.Gln1164AsnfsTer?
XM_017029260.1:c.3489del XP_016884749.1:p.Gln1164AsnfsTer?
XM_017029261.1:c.3489del XP_016884750.1:p.Gln1164AsnfsTer?
XM_017029262.2:c.3489del XP_016884751.1:p.Gln1164AsnfsTer?
XM_017029263.2:c.1809del XP_016884752.1:p.Gln604AsnfsTer?
NM_000495.5:c.3474del NP_000486.1:p.Gln1159AsnfsTer?
NM_033380.3:c.3474del MANE Select NP_203699.1:p.Gln1159AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'