Canonical Allele Identifier: CA334058980
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886412
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687492_108687518del , CM000685.2:g.108687492_108687518del GRCh38
NC_000023.10:g.107930722_107930748del , CM000685.1:g.107930722_107930748del GRCh37
NC_000023.9:g.107817378_107817404del NCBI36
NG_011977.1:g.252569_252595del
NG_011977.2:g.252569_252595del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4326_4352del MANE Select ENSP00000331902.7:p.Leu1443_Gly1451del
ENST00000361603.7:c.4308_4334del ENSP00000354505.2:p.Leu1437_Gly1445del
ENST00000510690.2:n.820_846del
ENST00000328300.10:c.4326_4352del ENSP00000331902.6:p.Leu1443_Gly1451del
ENST00000361603.6:c.4308_4334del ENSP00000354505.2:p.Leu1437_Gly1445del
ENST00000515658.1:c.122_148del
NM_000495.4:c.4308_4334del NP_000486.1:p.Leu1437_Gly1445del
NM_033380.2:c.4326_4352del NP_203699.1:p.Leu1443_Gly1451del
XM_005262070.2:c.4317_4343del XP_005262127.1:p.Leu1440_Gly1448del
XM_006724616.2:c.4326_4352del XP_006724679.1:p.Leu1443_Gly1451del
XM_011530849.1:c.4002_4028del XP_011529151.1:p.Leu1335_Gly1343del
XM_011530851.1:c.1899_1925del XP_011529153.1:p.Leu634_Gly642del
XM_011530849.2:c.4341_4367del XP_011529151.2:p.Leu1448_Gly1456del
XM_017029259.2:c.4332_4358del XP_016884748.1:p.Leu1445_Gly1453del
XM_017029260.1:c.4323_4349del XP_016884749.1:p.Leu1442_Gly1450del
XM_017029263.2:c.2661_2687del XP_016884752.1:p.Leu888_Gly896del
NM_000495.5:c.4308_4334del NP_000486.1:p.Leu1437_Gly1445del
NM_033380.3:c.4326_4352del MANE Select NP_203699.1:p.Leu1443_Gly1451del
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