Canonical Allele Identifier: CA258714
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886355
MyVariant Identifiers: chrX:g.107863574_107863591del (hg19) chrX:g.108620344_108620361del (hg38)
PubMed: PMID:12105244
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108620344_108620361del , CM000685.2:g.108620344_108620361del GRCh38
NC_000023.10:g.107863574_107863591del , CM000685.1:g.107863574_107863591del GRCh37
NC_000023.9:g.107750230_107750247del NCBI36
NG_011977.1:g.185421_185438del
NG_011977.2:g.185421_185438del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2595_2612del MANE Select ENSP00000331902.7:p.Gly866_Pro871del
ENST00000361603.7:c.2595_2612del ENSP00000354505.2:p.Gly866_Pro871del
ENST00000328300.10:c.2595_2612del ENSP00000331902.6:p.Gly866_Pro871del
ENST00000361603.6:c.2595_2612del ENSP00000354505.2:p.Gly866_Pro871del
ENST00000483338.1:n.2051_2068del
NM_000495.4:c.2595_2612del NP_000486.1:p.Gly866_Pro871del
NM_033380.2:c.2595_2612del NP_203699.1:p.Gly866_Pro871del
XM_005262070.2:c.2595_2612del XP_005262127.1:p.Gly866_Pro871del
XM_005262072.3:c.2595_2612del XP_005262129.1:p.Gly866_Pro871del
XM_006724616.2:c.2595_2612del XP_006724679.1:p.Gly866_Pro871del
XM_011530849.1:c.2271_2288del XP_011529151.1:p.Gly758_Pro763del
XM_011530850.1:c.2595_2612del XP_011529152.1:p.Gly866_Pro871del
XM_011530851.1:c.168_185del XP_011529153.1:p.Gly57_Pro62del
XM_011530849.2:c.2610_2627del XP_011529151.2:p.Gly871_Pro876del
XM_017029259.2:c.2610_2627del XP_016884748.1:p.Gly871_Pro876del
XM_017029260.1:c.2610_2627del XP_016884749.1:p.Gly871_Pro876del
XM_017029261.1:c.2610_2627del XP_016884750.1:p.Gly871_Pro876del
XM_017029262.2:c.2610_2627del XP_016884751.1:p.Gly871_Pro876del
XM_017029263.2:c.930_947del XP_016884752.1:p.Gly311_Pro316del
NM_000495.5:c.2595_2612del NP_000486.1:p.Gly866_Pro871del
NM_033380.3:c.2595_2612del MANE Select NP_203699.1:p.Gly866_Pro871del
Search 100 bp 5'
Search 100 bp 3'