Canonical Allele Identifier: CA1139667748

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 975065
• ClinVar RCV Id: RCV001251469
• dbSNP Id: rs2068436110

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681791_108681798del , CM000685.2:g.108681791_108681798del	GRCh38
NC_000023.10:g.107925021_107925028del , CM000685.1:g.107925021_107925028del	GRCh37
NC_000023.9:g.107811677_107811684del	NCBI36
NG_011977.1:g.246868_246875del
NG_011977.2:g.246868_246875del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4119_4126del MANE Select	ENSP00000331902.7:p.Gln1373HisfsTer3
ENST00000361603.7:c.4101_4108del	ENSP00000354505.2:p.Gln1367HisfsTer3
ENST00000510690.2:n.613_620del
ENST00000328300.10:c.4119_4126del	ENSP00000331902.6:p.Gln1373HisfsTer3
ENST00000361603.6:c.4101_4108del	ENSP00000354505.2:p.Gln1367HisfsTer3
ENST00000489230.1:n.522_529del
NM_000495.4:c.4101_4108del	NP_000486.1:p.Gln1367HisfsTer3
NM_033380.2:c.4119_4126del	NP_203699.1:p.Gln1373HisfsTer3
XM_005262070.2:c.4110_4117del	XP_005262127.1:p.Gln1370HisfsTer3
XM_006724616.2:c.4119_4126del	XP_006724679.1:p.Gln1373HisfsTer3
XM_011530849.1:c.3795_3802del	XP_011529151.1:p.Gln1265HisfsTer3
XM_011530851.1:c.1692_1699del	XP_011529153.1:p.Gln564HisfsTer3
XM_011530849.2:c.4134_4141del	XP_011529151.2:p.Gln1378HisfsTer3
XM_017029259.2:c.4125_4132del	XP_016884748.1:p.Gln1375HisfsTer3
XM_017029260.1:c.4116_4123del	XP_016884749.1:p.Gln1372HisfsTer3
XM_017029263.2:c.2454_2461del	XP_016884752.1:p.Gln818HisfsTer3
NM_000495.5:c.4101_4108del	NP_000486.1:p.Gln1367HisfsTer3
NM_033380.3:c.4119_4126del MANE Select	NP_203699.1:p.Gln1373HisfsTer3