Canonical Allele Identifier: CA2739290533
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108591586_108591594del , CM000685.2:g.108591586_108591594del GRCh38
NC_000023.10:g.107834816_107834824del , CM000685.1:g.107834816_107834824del GRCh37
NC_000023.9:g.107721472_107721480del NCBI36
NG_011977.1:g.156663_156671del
NG_011977.2:g.156663_156671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1365_1373del MANE Select ENSP00000331902.7:p.Pro456_Pro458del
ENST00000361603.7:c.1365_1373del ENSP00000354505.2:p.Pro456_Pro458del
ENST00000328300.10:c.1365_1373del ENSP00000331902.6:p.Pro456_Pro458del
ENST00000361603.6:c.1365_1373del ENSP00000354505.2:p.Pro456_Pro458del
ENST00000483338.1:n.821_829del
NM_000495.4:c.1365_1373del NP_000486.1:p.Pro456_Pro458del
NM_033380.2:c.1365_1373del NP_203699.1:p.Pro456_Pro458del
XM_005262070.2:c.1365_1373del XP_005262127.1:p.Pro456_Pro458del
XM_005262072.3:c.1365_1373del XP_005262129.1:p.Pro456_Pro458del
XM_006724616.2:c.1365_1373del XP_006724679.1:p.Pro456_Pro458del
XM_011530849.1:c.1041_1049del XP_011529151.1:p.Pro348_Pro350del
XM_011530850.1:c.1365_1373del XP_011529152.1:p.Pro456_Pro458del
XM_011530849.2:c.1380_1388del XP_011529151.2:p.Pro461_Pro463del
XM_017029259.2:c.1380_1388del XP_016884748.1:p.Pro461_Pro463del
XM_017029260.1:c.1380_1388del XP_016884749.1:p.Pro461_Pro463del
XM_017029261.1:c.1380_1388del XP_016884750.1:p.Pro461_Pro463del
XM_017029262.2:c.1380_1388del XP_016884751.1:p.Pro461_Pro463del
XM_017029263.2:c.-345_-337del XP_016884752.1:n.-345_-337del
NM_000495.5:c.1365_1373del NP_000486.1:p.Pro456_Pro458del
NM_033380.3:c.1365_1373del MANE Select NP_203699.1:p.Pro456_Pro458del