Canonical Allele Identifier: CA645293930
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 426808
ClinVar RCV Id: RCV000489178
dbSNP Id: rs1085307808
MyVariant Identifiers: chrX:g.107842021del (hg19) chrX:g.108598791del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108598791del , CM000685.2:g.108598791del GRCh38
NC_000023.10:g.107842021del , CM000685.1:g.107842021del GRCh37
NC_000023.9:g.107728677del NCBI36
NG_011977.1:g.163868del
NG_011977.2:g.163868del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1869del MANE Select ENSP00000331902.7:p.Gly624ValfsTer8
ENST00000361603.7:c.1869del ENSP00000354505.2:p.Gly624ValfsTer8
ENST00000328300.10:c.1869del ENSP00000331902.6:p.Gly624ValfsTer8
ENST00000361603.6:c.1869del ENSP00000354505.2:p.Gly624ValfsTer8
ENST00000483338.1:n.1325del
NM_000495.4:c.1869del NP_000486.1:p.Gly624ValfsTer8
NM_033380.2:c.1869del NP_203699.1:p.Gly624ValfsTer8
XM_005262070.2:c.1869del XP_005262127.1:p.Gly624ValfsTer8
XM_005262072.3:c.1869del XP_005262129.1:p.Gly624ValfsTer8
XM_006724616.2:c.1869del XP_006724679.1:p.Gly624ValfsTer8
XM_011530849.1:c.1545del XP_011529151.1:p.Gly516ValfsTer8
XM_011530850.1:c.1869del XP_011529152.1:p.Gly624ValfsTer8
XM_011530849.2:c.1884del XP_011529151.2:p.Gly629ValfsTer8
XM_017029259.2:c.1884del XP_016884748.1:p.Gly629ValfsTer8
XM_017029260.1:c.1884del XP_016884749.1:p.Gly629ValfsTer8
XM_017029261.1:c.1884del XP_016884750.1:p.Gly629ValfsTer8
XM_017029262.2:c.1884del XP_016884751.1:p.Gly629ValfsTer8
XM_017029263.2:c.204del XP_016884752.1:p.Gly69ValfsTer8
NM_000495.5:c.1869del NP_000486.1:p.Gly624ValfsTer8
NM_033380.3:c.1869del MANE Select NP_203699.1:p.Gly624ValfsTer8
Search 100 bp 5'
Search 100 bp 3'