Canonical Allele Identifier: CA258320
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886443

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108578364_108578365del , CM000685.2:g.108578364_108578365del GRCh38
NC_000023.10:g.107821594_107821595del , CM000685.1:g.107821594_107821595del GRCh37
NC_000023.9:g.107708250_107708251del NCBI36
NG_011977.1:g.143441_143442del
NG_011977.2:g.143441_143442del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.761_762del MANE Select ENSP00000331902.7:p.Glu254ValfsTer11
ENST00000361603.7:c.761_762del ENSP00000354505.2:p.Glu254ValfsTer11
ENST00000328300.10:c.761_762del ENSP00000331902.6:p.Glu254ValfsTer11
ENST00000361603.6:c.761_762del ENSP00000354505.2:p.Glu254ValfsTer11
NM_000495.4:c.761_762del NP_000486.1:p.Glu254ValfsTer11
NM_033380.2:c.761_762del NP_203699.1:p.Glu254ValfsTer11
XM_005262070.2:c.761_762del XP_005262127.1:p.Glu254ValfsTer11
XM_005262072.3:c.761_762del XP_005262129.1:p.Glu254ValfsTer11
XM_006724616.2:c.761_762del XP_006724679.1:p.Glu254ValfsTer11
XM_011530849.1:c.437_438del XP_011529151.1:p.Glu146ValfsTer11
XM_011530850.1:c.761_762del XP_011529152.1:p.Glu254ValfsTer11
XM_011530849.2:c.776_777del XP_011529151.2:p.Glu259ValfsTer11
XM_017029259.2:c.776_777del XP_016884748.1:p.Glu259ValfsTer11
XM_017029260.1:c.776_777del XP_016884749.1:p.Glu259ValfsTer11
XM_017029261.1:c.776_777del XP_016884750.1:p.Glu259ValfsTer11
XM_017029262.2:c.776_777del XP_016884751.1:p.Glu259ValfsTer11
NM_000495.5:c.761_762del NP_000486.1:p.Glu254ValfsTer11
NM_033380.3:c.761_762del MANE Select NP_203699.1:p.Glu254ValfsTer11