Canonical Allele Identifier: CA258880
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886238

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108666550del , CM000685.2:g.108666550del GRCh38
NC_000023.10:g.107909780del , CM000685.1:g.107909780del GRCh37
NC_000023.9:g.107796436del NCBI36
NG_011977.1:g.231627del
NG_011977.2:g.231627del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3509del MANE Select ENSP00000331902.7:p.Gly1170ValfsTer?
ENST00000361603.7:c.3509del ENSP00000354505.2:p.Gly1170ValfsTer?
ENST00000328300.10:c.3509del ENSP00000331902.6:p.Gly1170ValfsTer?
ENST00000361603.6:c.3509del ENSP00000354505.2:p.Gly1170ValfsTer?
NM_000495.4:c.3509del NP_000486.1:p.Gly1170ValfsTer?
NM_033380.2:c.3509del NP_203699.1:p.Gly1170ValfsTer?
XM_005262070.2:c.3509del XP_005262127.1:p.Gly1170ValfsTer?
XM_006724616.2:c.3509del XP_006724679.1:p.Gly1170ValfsTer?
XM_011530849.1:c.3185del XP_011529151.1:p.Gly1062ValfsTer?
XM_011530850.1:c.3509del XP_011529152.1:p.Gly1170ValfsTer?
XM_011530851.1:c.1082del XP_011529153.1:p.Gly361ValfsTer?
XM_011530849.2:c.3524del XP_011529151.2:p.Gly1175ValfsTer?
XM_017029259.2:c.3524del XP_016884748.1:p.Gly1175ValfsTer?
XM_017029260.1:c.3524del XP_016884749.1:p.Gly1175ValfsTer?
XM_017029261.1:c.3524del XP_016884750.1:p.Gly1175ValfsTer?
XM_017029262.2:c.3524del XP_016884751.1:p.Gly1175ValfsTer?
XM_017029263.2:c.1844del XP_016884752.1:p.Gly615ValfsTer?
NM_000495.5:c.3509del NP_000486.1:p.Gly1170ValfsTer?
NM_033380.3:c.3509del MANE Select NP_203699.1:p.Gly1170ValfsTer?