Canonical Allele Identifier: CA869795992
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs1449361488

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108584318_108584319del , CM000685.2:g.108584318_108584319del GRCh38
NC_000023.10:g.107827548_107827549del , CM000685.1:g.107827548_107827549del GRCh37
NC_000023.9:g.107714204_107714205del NCBI36
NG_011977.1:g.149395_149396del
NG_011977.2:g.149395_149396del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.991-166_991-165del MANE Select ENSP00000331902.7:n.991-166_991-165del
ENST00000361603.7:c.991-166_991-165del ENSP00000354505.2:n.991-166_991-165del
ENST00000328300.10:c.991-166_991-165del ENSP00000331902.6:n.991-166_991-165del
ENST00000361603.6:c.991-166_991-165del ENSP00000354505.2:n.991-166_991-165del
ENST00000483338.1:n.447-166_447-165del
NM_000495.4:c.991-166_991-165del NP_000486.1:n.991-166_991-165del
NM_033380.2:c.991-166_991-165del NP_203699.1:n.991-166_991-165del
XM_005262070.2:c.991-166_991-165del XP_005262127.1:n.991-166_991-165del
XM_005262072.3:c.991-166_991-165del XP_005262129.1:n.991-166_991-165del
XM_006724616.2:c.991-166_991-165del XP_006724679.1:n.991-166_991-165del
XM_011530849.1:c.667-166_667-165del XP_011529151.1:n.667-166_667-165del
XM_011530850.1:c.991-166_991-165del XP_011529152.1:n.991-166_991-165del
XM_011530849.2:c.1006-166_1006-165del XP_011529151.2:n.1006-166_1006-165del
XM_017029259.2:c.1006-166_1006-165del XP_016884748.1:n.1006-166_1006-165del
XM_017029260.1:c.1006-166_1006-165del XP_016884749.1:n.1006-166_1006-165del
XM_017029261.1:c.1006-166_1006-165del XP_016884750.1:n.1006-166_1006-165del
XM_017029262.2:c.1006-166_1006-165del XP_016884751.1:n.1006-166_1006-165del
XM_017029263.2:c.-719-166_-719-165del XP_016884752.1:n.-719-166_-719-165del
NM_000495.5:c.991-166_991-165del NP_000486.1:n.991-166_991-165del
NM_033380.3:c.991-166_991-165del MANE Select NP_203699.1:n.991-166_991-165del