Canonical Allele Identifier: CA259045
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886275
MyVariant Identifiers: chrX:g.107930763del (hg19) chrX:g.108687533del (hg38)
PubMed: PMID:15954103
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687533del , CM000685.2:g.108687533del GRCh38
NC_000023.10:g.107930763del , CM000685.1:g.107930763del GRCh37
NC_000023.9:g.107817419del NCBI36
NG_011977.1:g.252610del
NG_011977.2:g.252610del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4367del MANE Select ENSP00000331902.7:p.Pro1456GlnfsTer?
ENST00000361603.7:c.4349del ENSP00000354505.2:p.Pro1450GlnfsTer?
ENST00000510690.2:n.861del
ENST00000328300.10:c.4367del ENSP00000331902.6:p.Pro1456GlnfsTer?
ENST00000361603.6:c.4349del ENSP00000354505.2:p.Pro1450GlnfsTer?
ENST00000515658.1:c.163del
NM_000495.4:c.4349del NP_000486.1:p.Pro1450GlnfsTer?
NM_033380.2:c.4367del NP_203699.1:p.Pro1456GlnfsTer?
XM_005262070.2:c.4358del XP_005262127.1:p.Pro1453GlnfsTer?
XM_006724616.2:c.4367del XP_006724679.1:p.Pro1456GlnfsTer?
XM_011530849.1:c.4043del XP_011529151.1:p.Pro1348GlnfsTer?
XM_011530851.1:c.1940del XP_011529153.1:p.Pro647GlnfsTer?
XM_011530849.2:c.4382del XP_011529151.2:p.Pro1461GlnfsTer?
XM_017029259.2:c.4373del XP_016884748.1:p.Pro1458GlnfsTer?
XM_017029260.1:c.4364del XP_016884749.1:p.Pro1455GlnfsTer?
XM_017029263.2:c.2702del XP_016884752.1:p.Pro901GlnfsTer?
NM_000495.5:c.4349del NP_000486.1:p.Pro1450GlnfsTer?
NM_033380.3:c.4367del MANE Select NP_203699.1:p.Pro1456GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'