Canonical Allele Identifier: CA258727
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886198
MyVariant Identifiers: chrX:g.107863604del (hg19) chrX:g.108620374del (hg38)
PubMed: PMID:10094548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108620374del , CM000685.2:g.108620374del GRCh38
NC_000023.10:g.107863604del , CM000685.1:g.107863604del GRCh37
NC_000023.9:g.107750260del NCBI36
NG_011977.1:g.185451del
NG_011977.2:g.185451del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2625del MANE Select ENSP00000331902.7:p.Pro876LeufsTer25
ENST00000361603.7:c.2625del ENSP00000354505.2:p.Pro876LeufsTer25
ENST00000328300.10:c.2625del ENSP00000331902.6:p.Pro876LeufsTer25
ENST00000361603.6:c.2625del ENSP00000354505.2:p.Pro876LeufsTer25
ENST00000483338.1:n.2081del
NM_000495.4:c.2625del NP_000486.1:p.Pro876LeufsTer25
NM_033380.2:c.2625del NP_203699.1:p.Pro876LeufsTer25
XM_005262070.2:c.2625del XP_005262127.1:p.Pro876LeufsTer25
XM_005262072.3:c.2625del XP_005262129.1:p.Pro876LeufsTer25
XM_006724616.2:c.2625del XP_006724679.1:p.Pro876LeufsTer25
XM_011530849.1:c.2301del XP_011529151.1:p.Pro768LeufsTer25
XM_011530850.1:c.2625del XP_011529152.1:p.Pro876LeufsTer25
XM_011530851.1:c.198del XP_011529153.1:p.Pro67LeufsTer25
XM_011530849.2:c.2640del XP_011529151.2:p.Pro881LeufsTer25
XM_017029259.2:c.2640del XP_016884748.1:p.Pro881LeufsTer25
XM_017029260.1:c.2640del XP_016884749.1:p.Pro881LeufsTer25
XM_017029261.1:c.2640del XP_016884750.1:p.Pro881LeufsTer25
XM_017029262.2:c.2640del XP_016884751.1:p.Pro881LeufsTer25
XM_017029263.2:c.960del XP_016884752.1:p.Pro321LeufsTer25
NM_000495.5:c.2625del NP_000486.1:p.Pro876LeufsTer25
NM_033380.3:c.2625del MANE Select NP_203699.1:p.Pro876LeufsTer25
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