Canonical Allele Identifier: CA2580100305

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2007623
• ClinVar RCV Id: RCV002842448

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108598740_108598793del , CM000685.2:g.108598740_108598793del	GRCh38
NC_000023.10:g.107841970_107842023del , CM000685.1:g.107841970_107842023del	GRCh37
NC_000023.9:g.107728626_107728679del	NCBI36
NG_011977.1:g.163817_163870del
NG_011977.2:g.163817_163870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1818_1871del MANE Select	ENSP00000331902.7:p.Asn607_Gly624del
ENST00000361603.7:c.1818_1871del	ENSP00000354505.2:p.Asn607_Gly624del
ENST00000328300.10:c.1818_1871del	ENSP00000331902.6:p.Asn607_Gly624del
ENST00000361603.6:c.1818_1871del	ENSP00000354505.2:p.Asn607_Gly624del
ENST00000483338.1:n.1274_1327del
NM_000495.4:c.1818_1871del	NP_000486.1:p.Asn607_Gly624del
NM_033380.2:c.1818_1871del	NP_203699.1:p.Asn607_Gly624del
XM_005262070.2:c.1818_1871del	XP_005262127.1:p.Asn607_Gly624del
XM_005262072.3:c.1818_1871del	XP_005262129.1:p.Asn607_Gly624del
XM_006724616.2:c.1818_1871del	XP_006724679.1:p.Asn607_Gly624del
XM_011530849.1:c.1494_1547del	XP_011529151.1:p.Asn499_Gly516del
XM_011530850.1:c.1818_1871del	XP_011529152.1:p.Asn607_Gly624del
XM_011530849.2:c.1833_1886del	XP_011529151.2:p.Asn612_Gly629del
XM_017029259.2:c.1833_1886del	XP_016884748.1:p.Asn612_Gly629del
XM_017029260.1:c.1833_1886del	XP_016884749.1:p.Asn612_Gly629del
XM_017029261.1:c.1833_1886del	XP_016884750.1:p.Asn612_Gly629del
XM_017029262.2:c.1833_1886del	XP_016884751.1:p.Asn612_Gly629del
XM_017029263.2:c.153_206del	XP_016884752.1:p.Asn52_Gly69del
NM_000495.5:c.1818_1871del	NP_000486.1:p.Asn607_Gly624del
NM_033380.3:c.1818_1871del MANE Select	NP_203699.1:p.Asn607_Gly624del