Canonical Allele Identifier: CA869820414
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs1170681477

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108578433_108578436del , CM000685.2:g.108578433_108578436del GRCh38
NC_000023.10:g.107821663_107821666del , CM000685.1:g.107821663_107821666del GRCh37
NC_000023.9:g.107708319_107708322del NCBI36
NG_011977.1:g.143510_143513del
NG_011977.2:g.143510_143513del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.780+50_780+53del MANE Select ENSP00000331902.7:n.780+50_780+53del
ENST00000361603.7:c.780+50_780+53del ENSP00000354505.2:n.780+50_780+53del
ENST00000328300.10:c.780+50_780+53del ENSP00000331902.6:n.780+50_780+53del
ENST00000361603.6:c.780+50_780+53del ENSP00000354505.2:n.780+50_780+53del
NM_000495.4:c.780+50_780+53del NP_000486.1:n.780+50_780+53del
NM_033380.2:c.780+50_780+53del NP_203699.1:n.780+50_780+53del
XM_005262070.2:c.780+50_780+53del XP_005262127.1:n.780+50_780+53del
XM_005262072.3:c.780+50_780+53del XP_005262129.1:n.780+50_780+53del
XM_006724616.2:c.780+50_780+53del XP_006724679.1:n.780+50_780+53del
XM_011530849.1:c.456+50_456+53del XP_011529151.1:n.456+50_456+53del
XM_011530850.1:c.780+50_780+53del XP_011529152.1:n.780+50_780+53del
XM_011530849.2:c.795+50_795+53del XP_011529151.2:n.795+50_795+53del
XM_017029259.2:c.795+50_795+53del XP_016884748.1:n.795+50_795+53del
XM_017029260.1:c.795+50_795+53del XP_016884749.1:n.795+50_795+53del
XM_017029261.1:c.795+50_795+53del XP_016884750.1:n.795+50_795+53del
XM_017029262.2:c.795+50_795+53del XP_016884751.1:n.795+50_795+53del
NM_000495.5:c.780+50_780+53del NP_000486.1:n.780+50_780+53del
NM_033380.3:c.780+50_780+53del MANE Select NP_203699.1:n.780+50_780+53del