Canonical Allele Identifier: CA258986
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886403
MyVariant Identifiers: chrX:g.107925022_107925023del (hg19) chrX:g.108681792_108681793del (hg38)
PubMed: PMID:10094548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681792_108681793del , CM000685.2:g.108681792_108681793del GRCh38
NC_000023.10:g.107925022_107925023del , CM000685.1:g.107925022_107925023del GRCh37
NC_000023.9:g.107811678_107811679del NCBI36
NG_011977.1:g.246869_246870del
NG_011977.2:g.246869_246870del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4120_4121del MANE Select ENSP00000331902.7:p.Ser1374TyrfsTer4
ENST00000361603.7:c.4102_4103del ENSP00000354505.2:p.Ser1368TyrfsTer4
ENST00000510690.2:n.614_615del
ENST00000328300.10:c.4120_4121del ENSP00000331902.6:p.Ser1374TyrfsTer4
ENST00000361603.6:c.4102_4103del ENSP00000354505.2:p.Ser1368TyrfsTer4
ENST00000489230.1:n.523_524del
NM_000495.4:c.4102_4103del NP_000486.1:p.Ser1368TyrfsTer4
NM_033380.2:c.4120_4121del NP_203699.1:p.Ser1374TyrfsTer4
XM_005262070.2:c.4111_4112del XP_005262127.1:p.Ser1371TyrfsTer4
XM_006724616.2:c.4120_4121del XP_006724679.1:p.Ser1374TyrfsTer4
XM_011530849.1:c.3796_3797del XP_011529151.1:p.Ser1266TyrfsTer4
XM_011530851.1:c.1693_1694del XP_011529153.1:p.Ser565TyrfsTer4
XM_011530849.2:c.4135_4136del XP_011529151.2:p.Ser1379TyrfsTer4
XM_017029259.2:c.4126_4127del XP_016884748.1:p.Ser1376TyrfsTer4
XM_017029260.1:c.4117_4118del XP_016884749.1:p.Ser1373TyrfsTer4
XM_017029263.2:c.2455_2456del XP_016884752.1:p.Ser819TyrfsTer4
NM_000495.5:c.4102_4103del NP_000486.1:p.Ser1368TyrfsTer4
NM_033380.3:c.4120_4121del MANE Select NP_203699.1:p.Ser1374TyrfsTer4
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