Canonical Allele Identifier: CA2499226316

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1070099
• ClinVar RCV Id: RCV001382128
• dbSNP Id: rs2147831991

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108606759del , CM000685.2:g.108606759del	GRCh38
NC_000023.10:g.107849989del , CM000685.1:g.107849989del	GRCh37
NC_000023.9:g.107736645del	NCBI36
NG_011977.1:g.171836del
NG_011977.2:g.171836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2262del MANE Select	ENSP00000331902.7:p.Leu755TyrfsTer?
ENST00000361603.7:c.2262del	ENSP00000354505.2:p.Leu755TyrfsTer?
ENST00000328300.10:c.2262del	ENSP00000331902.6:p.Leu755TyrfsTer?
ENST00000361603.6:c.2262del	ENSP00000354505.2:p.Leu755TyrfsTer?
ENST00000483338.1:n.1718del
NM_000495.4:c.2262del	NP_000486.1:p.Leu755TyrfsTer?
NM_033380.2:c.2262del	NP_203699.1:p.Leu755TyrfsTer?
XM_005262070.2:c.2262del	XP_005262127.1:p.Leu755TyrfsTer?
XM_005262072.3:c.2262del	XP_005262129.1:p.Leu755TyrfsTer?
XM_006724616.2:c.2262del	XP_006724679.1:p.Leu755TyrfsTer?
XM_011530849.1:c.1938del	XP_011529151.1:p.Leu647TyrfsTer?
XM_011530850.1:c.2262del	XP_011529152.1:p.Leu755TyrfsTer?
XM_011530851.1:c.-33+3698del	XP_011529153.1:n.-33+3698del
XM_011530849.2:c.2277del	XP_011529151.2:p.Leu760TyrfsTer?
XM_017029259.2:c.2277del	XP_016884748.1:p.Leu760TyrfsTer?
XM_017029260.1:c.2277del	XP_016884749.1:p.Leu760TyrfsTer?
XM_017029261.1:c.2277del	XP_016884750.1:p.Leu760TyrfsTer?
XM_017029262.2:c.2277del	XP_016884751.1:p.Leu760TyrfsTer?
XM_017029263.2:c.597del	XP_016884752.1:p.Leu200TyrfsTer?
NM_000495.5:c.2262del	NP_000486.1:p.Leu755TyrfsTer?
NM_033380.3:c.2262del MANE Select	NP_203699.1:p.Leu755TyrfsTer?