Canonical Allele Identifier: CA258962
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886259
MyVariant Identifiers: chrX:g.107920859del (hg19) chrX:g.108677629del (hg38)
PubMed: PMID:8940267
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108677629del , CM000685.2:g.108677629del GRCh38
NC_000023.10:g.107920859del , CM000685.1:g.107920859del GRCh37
NC_000023.9:g.107807515del NCBI36
NG_011977.1:g.242706del
NG_011977.2:g.242706del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3938del MANE Select ENSP00000331902.7:p.Leu1313ProfsTer13
ENST00000361603.7:c.3920del ENSP00000354505.2:p.Leu1307ProfsTer13
ENST00000510690.2:n.432del
ENST00000328300.10:c.3938del ENSP00000331902.6:p.Leu1313ProfsTer13
ENST00000361603.6:c.3920del ENSP00000354505.2:p.Leu1307ProfsTer13
ENST00000489230.1:n.341del
NM_000495.4:c.3920del NP_000486.1:p.Leu1307ProfsTer13
NM_033380.2:c.3938del NP_203699.1:p.Leu1313ProfsTer13
XM_005262070.2:c.3929del XP_005262127.1:p.Leu1310ProfsTer13
XM_006724616.2:c.3938del XP_006724679.1:p.Leu1313ProfsTer13
XM_011530849.1:c.3614del XP_011529151.1:p.Leu1205ProfsTer13
XM_011530851.1:c.1511del XP_011529153.1:p.Leu504ProfsTer13
XM_011530849.2:c.3953del XP_011529151.2:p.Leu1318ProfsTer13
XM_017029259.2:c.3944del XP_016884748.1:p.Leu1315ProfsTer13
XM_017029260.1:c.3935del XP_016884749.1:p.Leu1312ProfsTer13
XM_017029261.1:c.3953del XP_016884750.1:p.Leu1318ProfsTer6
XM_017029263.2:c.2273del XP_016884752.1:p.Leu758ProfsTer13
NM_000495.5:c.3920del NP_000486.1:p.Leu1307ProfsTer13
NM_033380.3:c.3938del MANE Select NP_203699.1:p.Leu1313ProfsTer13
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