Canonical Allele Identifier: CA2694411525
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108595400_108595401del , CM000685.2:g.108595400_108595401del GRCh38
NC_000023.10:g.107838630_107838631del , CM000685.1:g.107838630_107838631del GRCh37
NC_000023.9:g.107725286_107725287del NCBI36
NG_011977.1:g.160477_160478del
NG_011977.2:g.160477_160478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.1424-109_1424-108del MANE Select ENSP00000331902.7:n.1424-109_1424-108del
ENST00000361603.7:c.1424-109_1424-108del ENSP00000354505.2:n.1424-109_1424-108del
ENST00000328300.10:c.1424-109_1424-108del ENSP00000331902.6:n.1424-109_1424-108del
ENST00000361603.6:c.1424-109_1424-108del ENSP00000354505.2:n.1424-109_1424-108del
ENST00000483338.1:n.880-109_880-108del
NM_000495.4:c.1424-109_1424-108del NP_000486.1:n.1424-109_1424-108del
NM_033380.2:c.1424-109_1424-108del NP_203699.1:n.1424-109_1424-108del
XM_005262070.2:c.1424-109_1424-108del XP_005262127.1:n.1424-109_1424-108del
XM_005262072.3:c.1424-109_1424-108del XP_005262129.1:n.1424-109_1424-108del
XM_006724616.2:c.1424-109_1424-108del XP_006724679.1:n.1424-109_1424-108del
XM_011530849.1:c.1100-109_1100-108del XP_011529151.1:n.1100-109_1100-108del
XM_011530850.1:c.1424-109_1424-108del XP_011529152.1:n.1424-109_1424-108del
XM_011530849.2:c.1439-109_1439-108del XP_011529151.2:n.1439-109_1439-108del
XM_017029259.2:c.1439-109_1439-108del XP_016884748.1:n.1439-109_1439-108del
XM_017029260.1:c.1439-109_1439-108del XP_016884749.1:n.1439-109_1439-108del
XM_017029261.1:c.1439-109_1439-108del XP_016884750.1:n.1439-109_1439-108del
XM_017029262.2:c.1439-109_1439-108del XP_016884751.1:n.1439-109_1439-108del
XM_017029263.2:c.-242-109_-242-108del XP_016884752.1:n.-242-109_-242-108del
NM_000495.5:c.1424-109_1424-108del NP_000486.1:n.1424-109_1424-108del
NM_033380.3:c.1424-109_1424-108del MANE Select NP_203699.1:n.1424-109_1424-108del