Canonical Allele Identifier: CA258464
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886321
MyVariant Identifiers: chrX:g.107834822_107834830del (hg19) chrX:g.107834817_107834825del (hg19) chrX:g.108591592_108591600del (hg38) chrX:g.108591587_108591595del (hg38)
PubMed: PMID:9848783 PMID:11462238
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108591592_108591600del , CM000685.2:g.108591592_108591600del GRCh38
NC_000023.10:g.107834822_107834830del , CM000685.1:g.107834822_107834830del GRCh37
NC_000023.9:g.107721478_107721486del NCBI36
NG_011977.1:g.156669_156677del
NG_011977.2:g.156669_156677del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1371_1379del MANE Select ENSP00000331902.7:p.Pro458_Gly460del
ENST00000361603.7:c.1371_1379del ENSP00000354505.2:p.Pro458_Gly460del
ENST00000328300.10:c.1371_1379del ENSP00000331902.6:p.Pro458_Gly460del
ENST00000361603.6:c.1371_1379del ENSP00000354505.2:p.Pro458_Gly460del
ENST00000483338.1:n.827_835del
NM_000495.4:c.1371_1379del NP_000486.1:p.Pro458_Gly460del
NM_033380.2:c.1371_1379del NP_203699.1:p.Pro458_Gly460del
XM_005262070.2:c.1371_1379del XP_005262127.1:p.Pro458_Gly460del
XM_005262072.3:c.1371_1379del XP_005262129.1:p.Pro458_Gly460del
XM_006724616.2:c.1371_1379del XP_006724679.1:p.Pro458_Gly460del
XM_011530849.1:c.1047_1055del XP_011529151.1:p.Pro350_Gly352del
XM_011530850.1:c.1371_1379del XP_011529152.1:p.Pro458_Gly460del
XM_011530849.2:c.1386_1394del XP_011529151.2:p.Pro463_Gly465del
XM_017029259.2:c.1386_1394del XP_016884748.1:p.Pro463_Gly465del
XM_017029260.1:c.1386_1394del XP_016884749.1:p.Pro463_Gly465del
XM_017029261.1:c.1386_1394del XP_016884750.1:p.Pro463_Gly465del
XM_017029262.2:c.1386_1394del XP_016884751.1:p.Pro463_Gly465del
XM_017029263.2:c.-339_-331del XP_016884752.1:n.-339_-331del
NM_000495.5:c.1371_1379del NP_000486.1:p.Pro458_Gly460del
NM_033380.3:c.1371_1379del MANE Select NP_203699.1:p.Pro458_Gly460del
Search 100 bp 5'
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