Canonical Allele Identifier: CA2695197173

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2629847
• ClinVar RCV Id: RCV003399909

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624272del , CM000685.2:g.108624272del	GRCh38
NC_000023.10:g.107867502del , CM000685.1:g.107867502del	GRCh37
NC_000023.9:g.107754158del	NCBI36
NG_011977.1:g.189349del
NG_011977.2:g.189349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2954del MANE Select	ENSP00000331902.7:p.Gly985ValfsTer11
ENST00000361603.7:c.2954del	ENSP00000354505.2:p.Gly985ValfsTer11
ENST00000328300.10:c.2954del	ENSP00000331902.6:p.Gly985ValfsTer11
ENST00000361603.6:c.2954del	ENSP00000354505.2:p.Gly985ValfsTer11
ENST00000483338.1:n.2410del
ENST00000505728.1:c.187del
NM_000495.4:c.2954del	NP_000486.1:p.Gly985ValfsTer11
NM_033380.2:c.2954del	NP_203699.1:p.Gly985ValfsTer11
XM_005262070.2:c.2954del	XP_005262127.1:p.Gly985ValfsTer11
XM_005262072.3:c.2954del	XP_005262129.1:p.Gly985ValfsTer11
XM_006724616.2:c.2954del	XP_006724679.1:p.Gly985ValfsTer11
XM_011530849.1:c.2630del	XP_011529151.1:p.Gly877ValfsTer11
XM_011530850.1:c.2954del	XP_011529152.1:p.Gly985ValfsTer11
XM_011530851.1:c.527del	XP_011529153.1:p.Gly176ValfsTer11
XM_011530849.2:c.2969del	XP_011529151.2:p.Gly990ValfsTer11
XM_017029259.2:c.2969del	XP_016884748.1:p.Gly990ValfsTer11
XM_017029260.1:c.2969del	XP_016884749.1:p.Gly990ValfsTer11
XM_017029261.1:c.2969del	XP_016884750.1:p.Gly990ValfsTer11
XM_017029262.2:c.2969del	XP_016884751.1:p.Gly990ValfsTer11
XM_017029263.2:c.1289del	XP_016884752.1:p.Gly430ValfsTer11
NM_000495.5:c.2954del	NP_000486.1:p.Gly985ValfsTer11
NM_033380.3:c.2954del MANE Select	NP_203699.1:p.Gly985ValfsTer11