Canonical Allele Identifier: CA2580100190

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1724442
• ClinVar RCV Id: RCV002309710

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668496_108668497del , CM000685.2:g.108668496_108668497del	GRCh38
NC_000023.10:g.107911726_107911727del , CM000685.1:g.107911726_107911727del	GRCh37
NC_000023.9:g.107798382_107798383del	NCBI36
NG_011977.1:g.233573_233574del
NG_011977.2:g.233573_233574del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3782_3783del MANE Select	ENSP00000331902.7:p.Gly1261GlufsTer26
ENST00000361603.7:c.3782_3783del	ENSP00000354505.2:p.Gly1261GlufsTer20
ENST00000328300.10:c.3782_3783del	ENSP00000331902.6:p.Gly1261GlufsTer26
ENST00000361603.6:c.3782_3783del	ENSP00000354505.2:p.Gly1261GlufsTer20
NM_000495.4:c.3782_3783del	NP_000486.1:p.Gly1261GlufsTer20
NM_033380.2:c.3782_3783del	NP_203699.1:p.Gly1261GlufsTer26
XM_005262070.2:c.3782_3783del	XP_005262127.1:p.Gly1261GlufsTer23
XM_006724616.2:c.3782_3783del	XP_006724679.1:p.Gly1261GlufsTer26
XM_011530849.1:c.3458_3459del	XP_011529151.1:p.Gly1153GlufsTer26
XM_011530850.1:c.3782_3783del	XP_011529152.1:p.Gly1261GlufsTer28
XM_011530851.1:c.1355_1356del	XP_011529153.1:p.Gly452GlufsTer26
XM_011530849.2:c.3797_3798del	XP_011529151.2:p.Gly1266GlufsTer26
XM_017029259.2:c.3797_3798del	XP_016884748.1:p.Gly1266GlufsTer23
XM_017029260.1:c.3797_3798del	XP_016884749.1:p.Gly1266GlufsTer20
XM_017029261.1:c.3797_3798del	XP_016884750.1:p.Gly1266GlufsTer26
XM_017029262.2:c.3797_3798del	XP_016884751.1:p.Gly1266GlufsTer28
XM_017029263.2:c.2117_2118del	XP_016884752.1:p.Gly706GlufsTer26
NM_000495.5:c.3782_3783del	NP_000486.1:p.Gly1261GlufsTer20
NM_033380.3:c.3782_3783del MANE Select	NP_203699.1:p.Gly1261GlufsTer26