Canonical Allele Identifier: CA258192
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886333
MyVariant Identifiers: chrX:g.107840253_107840254del (hg19) chrX:g.108597023_108597024del (hg38)
PubMed: PMID:10094548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108597023_108597024del , CM000685.2:g.108597023_108597024del GRCh38
NC_000023.10:g.107840253_107840254del , CM000685.1:g.107840253_107840254del GRCh37
NC_000023.9:g.107726909_107726910del NCBI36
NG_011977.1:g.162100_162101del
NG_011977.2:g.162100_162101del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1542_1543del MANE Select ENSP00000331902.7:p.Glu516LysfsTer28
ENST00000361603.7:c.1542_1543del ENSP00000354505.2:p.Glu516LysfsTer28
ENST00000328300.10:c.1542_1543del ENSP00000331902.6:p.Glu516LysfsTer28
ENST00000361603.6:c.1542_1543del ENSP00000354505.2:p.Glu516LysfsTer28
ENST00000483338.1:n.998_999del
NM_000495.4:c.1542_1543del NP_000486.1:p.Glu516LysfsTer28
NM_033380.2:c.1542_1543del NP_203699.1:p.Glu516LysfsTer28
XM_005262070.2:c.1542_1543del XP_005262127.1:p.Glu516LysfsTer28
XM_005262072.3:c.1542_1543del XP_005262129.1:p.Glu516LysfsTer28
XM_006724616.2:c.1542_1543del XP_006724679.1:p.Glu516LysfsTer28
XM_011530849.1:c.1218_1219del XP_011529151.1:p.Glu408LysfsTer28
XM_011530850.1:c.1542_1543del XP_011529152.1:p.Glu516LysfsTer28
XM_011530849.2:c.1557_1558del XP_011529151.2:p.Glu521LysfsTer28
XM_017029259.2:c.1557_1558del XP_016884748.1:p.Glu521LysfsTer28
XM_017029260.1:c.1557_1558del XP_016884749.1:p.Glu521LysfsTer28
XM_017029261.1:c.1557_1558del XP_016884750.1:p.Glu521LysfsTer28
XM_017029262.2:c.1557_1558del XP_016884751.1:p.Glu521LysfsTer28
XM_017029263.2:c.-124_-123del XP_016884752.1:n.-124_-123del
NM_000495.5:c.1542_1543del NP_000486.1:p.Glu516LysfsTer28
NM_033380.3:c.1542_1543del MANE Select NP_203699.1:p.Glu516LysfsTer28
Search 100 bp 5'
Search 100 bp 3'