Canonical Allele Identifier: CA259129
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886301
MyVariant Identifiers: chrX:g.107938525del (hg19) chrX:g.108695295del (hg38)
PubMed: PMID:8651296
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695295del , CM000685.2:g.108695295del GRCh38
NC_000023.10:g.107938525del , CM000685.1:g.107938525del GRCh37
NC_000023.9:g.107825181del NCBI36
NG_011977.1:g.260372del
NG_011977.2:g.260372del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4850del MANE Select ENSP00000331902.7:p.Gly1617ValfsTer4
ENST00000361603.7:c.4832del ENSP00000354505.2:p.Gly1611ValfsTer4
ENST00000510690.2:n.1344del
ENST00000644079.1:n.1681del
ENST00000328300.10:c.4850del ENSP00000331902.6:p.Gly1617ValfsTer4
ENST00000361603.6:c.4832del ENSP00000354505.2:p.Gly1611ValfsTer4
ENST00000504541.1:c.219+374del ENSP00000424845.1:n.219+374del
ENST00000515658.1:c.325-1002del
NM_000495.4:c.4832del NP_000486.1:p.Gly1611ValfsTer4
NM_033380.2:c.4850del NP_203699.1:p.Gly1617ValfsTer4
XM_005262070.2:c.4841del XP_005262127.1:p.Gly1614ValfsTer4
XM_006724616.2:c.4850del XP_006724679.1:p.Gly1617ValfsTer4
XM_011530849.1:c.4526del XP_011529151.1:p.Gly1509ValfsTer4
XM_011530851.1:c.2423del XP_011529153.1:p.Gly808ValfsTer4
XM_011530849.2:c.4865del XP_011529151.2:p.Gly1622ValfsTer4
XM_017029259.2:c.4856del XP_016884748.1:p.Gly1619ValfsTer4
XM_017029260.1:c.4847del XP_016884749.1:p.Gly1616ValfsTer4
XM_017029263.2:c.3185del XP_016884752.1:p.Gly1062ValfsTer4
NM_000495.5:c.4832del NP_000486.1:p.Gly1611ValfsTer4
NM_033380.3:c.4850del MANE Select NP_203699.1:p.Gly1617ValfsTer4
Search 100 bp 5'
Search 100 bp 3'