Canonical Allele Identifier: CA258515
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886128

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108597442del , CM000685.2:g.108597442del GRCh38
NC_000023.10:g.107840672del , CM000685.1:g.107840672del GRCh37
NC_000023.9:g.107727328del NCBI36
NG_011977.1:g.162519del
NG_011977.2:g.162519del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.1653del MANE Select ENSP00000331902.7:p.Thr552LeufsTer5
ENST00000361603.7:c.1653del ENSP00000354505.2:p.Thr552LeufsTer5
ENST00000328300.10:c.1653del ENSP00000331902.6:p.Thr552LeufsTer5
ENST00000361603.6:c.1653del ENSP00000354505.2:p.Thr552LeufsTer5
ENST00000483338.1:n.1109del
NM_000495.4:c.1653del NP_000486.1:p.Thr552LeufsTer5
NM_033380.2:c.1653del NP_203699.1:p.Thr552LeufsTer5
XM_005262070.2:c.1653del XP_005262127.1:p.Thr552LeufsTer5
XM_005262072.3:c.1653del XP_005262129.1:p.Thr552LeufsTer5
XM_006724616.2:c.1653del XP_006724679.1:p.Thr552LeufsTer5
XM_011530849.1:c.1329del XP_011529151.1:p.Thr444LeufsTer5
XM_011530850.1:c.1653del XP_011529152.1:p.Thr552LeufsTer5
XM_011530849.2:c.1668del XP_011529151.2:p.Thr557LeufsTer5
XM_017029259.2:c.1668del XP_016884748.1:p.Thr557LeufsTer5
XM_017029260.1:c.1668del XP_016884749.1:p.Thr557LeufsTer5
XM_017029261.1:c.1668del XP_016884750.1:p.Thr557LeufsTer5
XM_017029262.2:c.1668del XP_016884751.1:p.Thr557LeufsTer5
XM_017029263.2:c.-13del XP_016884752.1:n.-13del
NM_000495.5:c.1653del NP_000486.1:p.Thr552LeufsTer5
NM_033380.3:c.1653del MANE Select NP_203699.1:p.Thr552LeufsTer5