Canonical Allele Identifier: CA258665
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886175
MyVariant Identifiers: chrX:g.107850075del (hg19) chrX:g.108606845del (hg38)
PubMed: PMID:9848783
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108606845del , CM000685.2:g.108606845del GRCh38
NC_000023.10:g.107850075del , CM000685.1:g.107850075del GRCh37
NC_000023.9:g.107736731del NCBI36
NG_011977.1:g.171922del
NG_011977.2:g.171922del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2348del MANE Select ENSP00000331902.7:p.Pro783ArgfsTer9
ENST00000361603.7:c.2348del ENSP00000354505.2:p.Pro783ArgfsTer9
ENST00000328300.10:c.2348del ENSP00000331902.6:p.Pro783ArgfsTer9
ENST00000361603.6:c.2348del ENSP00000354505.2:p.Pro783ArgfsTer9
ENST00000483338.1:n.1804del
NM_000495.4:c.2348del NP_000486.1:p.Pro783ArgfsTer9
NM_033380.2:c.2348del NP_203699.1:p.Pro783ArgfsTer9
XM_005262070.2:c.2348del XP_005262127.1:p.Pro783ArgfsTer9
XM_005262072.3:c.2348del XP_005262129.1:p.Pro783ArgfsTer9
XM_006724616.2:c.2348del XP_006724679.1:p.Pro783ArgfsTer9
XM_011530849.1:c.2024del XP_011529151.1:p.Pro675ArgfsTer9
XM_011530850.1:c.2348del XP_011529152.1:p.Pro783ArgfsTer9
XM_011530851.1:c.-33+3784del XP_011529153.1:n.-33+3784del
XM_011530849.2:c.2363del XP_011529151.2:p.Pro788ArgfsTer9
XM_017029259.2:c.2363del XP_016884748.1:p.Pro788ArgfsTer9
XM_017029260.1:c.2363del XP_016884749.1:p.Pro788ArgfsTer9
XM_017029261.1:c.2363del XP_016884750.1:p.Pro788ArgfsTer9
XM_017029262.2:c.2363del XP_016884751.1:p.Pro788ArgfsTer9
XM_017029263.2:c.683del XP_016884752.1:p.Pro228ArgfsTer9
NM_000495.5:c.2348del NP_000486.1:p.Pro783ArgfsTer9
NM_033380.3:c.2348del MANE Select NP_203699.1:p.Pro783ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'