Canonical Allele Identifier: CA258322
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886445
MyVariant Identifiers: chrX:g.107823762_107823768del (hg19) chrX:g.108580532_108580538del (hg38)
PubMed: PMID:8648925
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108580532_108580538del , CM000685.2:g.108580532_108580538del GRCh38
NC_000023.10:g.107823762_107823768del , CM000685.1:g.107823762_107823768del GRCh37
NC_000023.9:g.107710418_107710424del NCBI36
NG_011977.1:g.145609_145615del
NG_011977.2:g.145609_145615del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.781-1_786del
ENST00000361603.7:c.781-1_786del
ENST00000328300.10:c.781-1_786del
ENST00000361603.6:c.781-1_786del
NM_000495.4:c.781-1_786del
NM_033380.2:c.781-1_786del
XM_005262070.2:c.781-1_786del
XM_005262072.3:c.781-1_786del
XM_006724616.2:c.781-1_786del
XM_011530849.1:c.457-1_462del
XM_011530850.1:c.781-1_786del
XM_011530849.2:c.796-1_801del
XM_017029259.2:c.796-1_801del
XM_017029260.1:c.796-1_801del
XM_017029261.1:c.796-1_801del
XM_017029262.2:c.796-1_801del
NM_000495.5:c.781-1_786del
NM_033380.3:c.781-1_786del
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