Canonical Allele Identifier: CA2579677325
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695444del , CM000685.2:g.108695444del GRCh38
NC_000023.10:g.107938674del , CM000685.1:g.107938674del GRCh37
NC_000023.9:g.107825330del NCBI36
NG_011977.1:g.260521del
NG_011977.2:g.260521del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4994+5del MANE Select ENSP00000331902.7:n.4994+5del
ENST00000361603.7:c.4976+5del ENSP00000354505.2:n.4976+5del
ENST00000510690.2:n.1488+5del
ENST00000644079.1:n.1830del
ENST00000328300.10:c.4994+5del ENSP00000331902.6:n.4994+5del
ENST00000361603.6:c.4976+5del ENSP00000354505.2:n.4976+5del
ENST00000504541.1:c.219+523del ENSP00000424845.1:n.219+523del
ENST00000515658.1:c.325-853del
NM_000495.4:c.4976+5del NP_000486.1:n.4976+5del
NM_033380.2:c.4994+5del NP_203699.1:n.4994+5del
XM_005262070.2:c.4985+5del XP_005262127.1:n.4985+5del
XM_006724616.2:c.4994+5del XP_006724679.1:n.4994+5del
XM_011530849.1:c.4670+5del XP_011529151.1:n.4670+5del
XM_011530851.1:c.2567+5del XP_011529153.1:n.2567+5del
XM_011530849.2:c.5009+5del XP_011529151.2:n.5009+5del
XM_017029259.2:c.5000+5del XP_016884748.1:n.5000+5del
XM_017029260.1:c.4991+5del XP_016884749.1:n.4991+5del
XM_017029263.2:c.3329+5del XP_016884752.1:n.3329+5del
NM_000495.5:c.4976+5del NP_000486.1:n.4976+5del
NM_033380.3:c.4994+5del MANE Select NP_203699.1:n.4994+5del