Canonical Allele Identifier: CA645606858
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621817del , CM000685.2:g.108621817del GRCh38
NC_000023.10:g.107865047del , CM000685.1:g.107865047del GRCh37
NC_000023.9:g.107751703del NCBI36
NG_011977.1:g.186894del
NG_011977.2:g.186894del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2692del MANE Select ENSP00000331902.7:p.Met898TrpfsTer3
ENST00000361603.7:c.2692del ENSP00000354505.2:p.Met898TrpfsTer3
ENST00000328300.10:c.2692del ENSP00000331902.6:p.Met898TrpfsTer3
ENST00000361603.6:c.2692del ENSP00000354505.2:p.Met898TrpfsTer3
ENST00000483338.1:n.2148del
NM_000495.4:c.2692del NP_000486.1:p.Met898TrpfsTer3
NM_033380.2:c.2692del NP_203699.1:p.Met898TrpfsTer3
XM_005262070.2:c.2692del XP_005262127.1:p.Met898TrpfsTer3
XM_005262072.3:c.2692del XP_005262129.1:p.Met898TrpfsTer3
XM_006724616.2:c.2692del XP_006724679.1:p.Met898TrpfsTer3
XM_011530849.1:c.2368del XP_011529151.1:p.Met790TrpfsTer3
XM_011530850.1:c.2692del XP_011529152.1:p.Met898TrpfsTer3
XM_011530851.1:c.265del XP_011529153.1:p.Met89TrpfsTer3
XM_011530849.2:c.2707del XP_011529151.2:p.Met903TrpfsTer3
XM_017029259.2:c.2707del XP_016884748.1:p.Met903TrpfsTer3
XM_017029260.1:c.2707del XP_016884749.1:p.Met903TrpfsTer3
XM_017029261.1:c.2707del XP_016884750.1:p.Met903TrpfsTer3
XM_017029262.2:c.2707del XP_016884751.1:p.Met903TrpfsTer3
XM_017029263.2:c.1027del XP_016884752.1:p.Met343TrpfsTer3
NM_000495.5:c.2692del NP_000486.1:p.Met898TrpfsTer3
NM_033380.3:c.2692del MANE Select NP_203699.1:p.Met898TrpfsTer3