Canonical Allele Identifier: CA259137
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886304
MyVariant Identifiers: chrX:g.107938661del (hg19) chrX:g.108695431del (hg38)
PubMed: PMID:10561141
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695431del , CM000685.2:g.108695431del GRCh38
NC_000023.10:g.107938661del , CM000685.1:g.107938661del GRCh37
NC_000023.9:g.107825317del NCBI36
NG_011977.1:g.260508del
NG_011977.2:g.260508del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4986del MANE Select ENSP00000331902.7:p.Asp1662GlufsTer11
ENST00000361603.7:c.4968del ENSP00000354505.2:p.Asp1656GlufsTer11
ENST00000510690.2:n.1480del
ENST00000644079.1:n.1817del
ENST00000328300.10:c.4986del ENSP00000331902.6:p.Asp1662GlufsTer11
ENST00000361603.6:c.4968del ENSP00000354505.2:p.Asp1656GlufsTer11
ENST00000504541.1:c.219+510del ENSP00000424845.1:n.219+510del
ENST00000515658.1:c.325-866del
NM_000495.4:c.4968del NP_000486.1:p.Asp1656GlufsTer11
NM_033380.2:c.4986del NP_203699.1:p.Asp1662GlufsTer11
XM_005262070.2:c.4977del XP_005262127.1:p.Asp1659GlufsTer11
XM_006724616.2:c.4986del XP_006724679.1:p.Asp1662GlufsTer11
XM_011530849.1:c.4662del XP_011529151.1:p.Asp1554GlufsTer11
XM_011530851.1:c.2559del XP_011529153.1:p.Asp853GlufsTer11
XM_011530849.2:c.5001del XP_011529151.2:p.Asp1667GlufsTer11
XM_017029259.2:c.4992del XP_016884748.1:p.Asp1664GlufsTer11
XM_017029260.1:c.4983del XP_016884749.1:p.Asp1661GlufsTer11
XM_017029263.2:c.3321del XP_016884752.1:p.Asp1107GlufsTer11
NM_000495.5:c.4968del NP_000486.1:p.Asp1656GlufsTer11
NM_033380.3:c.4986del MANE Select NP_203699.1:p.Asp1662GlufsTer11
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