Canonical Allele Identifier: CA258957
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886256
MyVariant Identifiers: chrX:g.107911735del (hg19) chrX:g.108668505del (hg38)
PubMed: PMID:8940267
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108668505del , CM000685.2:g.108668505del GRCh38
NC_000023.10:g.107911735del , CM000685.1:g.107911735del GRCh37
NC_000023.9:g.107798391del NCBI36
NG_011977.1:g.233582del
NG_011977.2:g.233582del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3790+1del
ENST00000361603.7:c.3790+1del
ENST00000328300.10:c.3790+1del
ENST00000361603.6:c.3790+1del
NM_000495.4:c.3790+1del
NM_033380.2:c.3790+1del
XM_005262070.2:c.3790+1del
XM_006724616.2:c.3790+1del
XM_011530849.1:c.3466+1del
XM_011530850.1:c.3790+1del
XM_011530851.1:c.1363+1del
XM_011530849.2:c.3805+1del
XM_017029259.2:c.3805+1del
XM_017029260.1:c.3805+1del
XM_017029261.1:c.3805+1del
XM_017029262.2:c.3805+1del
XM_017029263.2:c.2125+1del
NM_000495.5:c.3790+1del
NM_033380.3:c.3790+1del
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