Canonical Allele Identifier: CA259156
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886307

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696354del , CM000685.2:g.108696354del GRCh38
NC_000023.10:g.107939584del , CM000685.1:g.107939584del GRCh37
NC_000023.9:g.107826240del NCBI36
NG_011977.1:g.261431del
NG_011977.2:g.261431del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.5052del MANE Select ENSP00000331902.7:p.Gln1685LysfsTer4
ENST00000361603.7:c.5034del ENSP00000354505.2:p.Gln1679LysfsTer4
ENST00000510690.2:n.1546del
ENST00000644079.1:n.2740del
ENST00000328300.10:c.5052del ENSP00000331902.6:p.Gln1685LysfsTer4
ENST00000361603.6:c.5034del ENSP00000354505.2:p.Gln1679LysfsTer4
ENST00000504541.1:c.277del ENSP00000424845.1:n.277del
ENST00000515658.1:c.382del
NM_000495.4:c.5034del NP_000486.1:p.Gln1679LysfsTer4
NM_033380.2:c.5052del NP_203699.1:p.Gln1685LysfsTer4
XM_005262070.2:c.5043del XP_005262127.1:p.Gln1682LysfsTer4
XM_006724616.2:c.5052del XP_006724679.1:p.Gln1685LysfsTer4
XM_011530849.1:c.4728del XP_011529151.1:p.Gln1577LysfsTer4
XM_011530851.1:c.2625del XP_011529153.1:p.Gln876LysfsTer4
XM_011530849.2:c.5067del XP_011529151.2:p.Gln1690LysfsTer4
XM_017029259.2:c.5058del XP_016884748.1:p.Gln1687LysfsTer4
XM_017029260.1:c.5049del XP_016884749.1:p.Gln1684LysfsTer4
XM_017029263.2:c.3387del XP_016884752.1:p.Gln1130LysfsTer4
NM_000495.5:c.5034del NP_000486.1:p.Gln1679LysfsTer4
NM_033380.3:c.5052del MANE Select NP_203699.1:p.Gln1685LysfsTer4