Canonical Allele Identifier: CA258783
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24580
dbSNP Id: rs104886374

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108624283_108624300del , CM000685.2:g.108624283_108624300del GRCh38
NC_000023.10:g.107867513_107867530del , CM000685.1:g.107867513_107867530del GRCh37
NC_000023.9:g.107754169_107754186del NCBI36
NG_011977.1:g.189360_189377del
NG_011977.2:g.189360_189377del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2965_2982del MANE Select ENSP00000331902.7:p.Asp989_Gly994del
ENST00000361603.7:c.2965_2982del ENSP00000354505.2:p.Asp989_Gly994del
ENST00000328300.10:c.2965_2982del ENSP00000331902.6:p.Asp989_Gly994del
ENST00000361603.6:c.2965_2982del ENSP00000354505.2:p.Asp989_Gly994del
ENST00000483338.1:n.2421_2438del
ENST00000505728.1:c.198_215del
NM_000495.4:c.2965_2982del NP_000486.1:p.Asp989_Gly994del
NM_033380.2:c.2965_2982del NP_203699.1:p.Asp989_Gly994del
XM_005262070.2:c.2965_2982del XP_005262127.1:p.Asp989_Gly994del
XM_005262072.3:c.2965_2982del XP_005262129.1:p.Asp989_Gly994del
XM_006724616.2:c.2965_2982del XP_006724679.1:p.Asp989_Gly994del
XM_011530849.1:c.2641_2658del XP_011529151.1:p.Asp881_Gly886del
XM_011530850.1:c.2965_2982del XP_011529152.1:p.Asp989_Gly994del
XM_011530851.1:c.538_555del XP_011529153.1:p.Asp180_Gly185del
XM_011530849.2:c.2980_2997del XP_011529151.2:p.Asp994_Gly999del
XM_017029259.2:c.2980_2997del XP_016884748.1:p.Asp994_Gly999del
XM_017029260.1:c.2980_2997del XP_016884749.1:p.Asp994_Gly999del
XM_017029261.1:c.2980_2997del XP_016884750.1:p.Asp994_Gly999del
XM_017029262.2:c.2980_2997del XP_016884751.1:p.Asp994_Gly999del
XM_017029263.2:c.1300_1317del XP_016884752.1:p.Asp434_Gly439del
NM_000495.5:c.2965_2982del NP_000486.1:p.Asp989_Gly994del
NM_033380.3:c.2965_2982del MANE Select NP_203699.1:p.Asp989_Gly994del