Canonical Allele Identifier: CA658659032

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 447206
• ClinVar RCV Id: RCV000517530
• dbSNP Id: rs1556446657
• MyVariant Identifiers: chrX:g.107911639del (hg19) ; chrX:g.108668409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668409del , CM000685.2:g.108668409del	GRCh38
NC_000023.10:g.107911639del , CM000685.1:g.107911639del	GRCh37
NC_000023.9:g.107798295del	NCBI36
NG_011977.1:g.233486del
NG_011977.2:g.233486del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3695del MANE Select	ENSP00000331902.7:p.Gly1232ValfsTer?
ENST00000361603.7:c.3695del	ENSP00000354505.2:p.Gly1232ValfsTer?
ENST00000328300.10:c.3695del	ENSP00000331902.6:p.Gly1232ValfsTer?
ENST00000361603.6:c.3695del	ENSP00000354505.2:p.Gly1232ValfsTer?
NM_000495.4:c.3695del	NP_000486.1:p.Gly1232ValfsTer?
NM_033380.2:c.3695del	NP_203699.1:p.Gly1232ValfsTer?
XM_005262070.2:c.3695del	XP_005262127.1:p.Gly1232ValfsTer?
XM_006724616.2:c.3695del	XP_006724679.1:p.Gly1232ValfsTer?
XM_011530849.1:c.3371del	XP_011529151.1:p.Gly1124ValfsTer?
XM_011530850.1:c.3695del	XP_011529152.1:p.Gly1232ValfsTer?
XM_011530851.1:c.1268del	XP_011529153.1:p.Gly423ValfsTer?
XM_011530849.2:c.3710del	XP_011529151.2:p.Gly1237ValfsTer?
XM_017029259.2:c.3710del	XP_016884748.1:p.Gly1237ValfsTer?
XM_017029260.1:c.3710del	XP_016884749.1:p.Gly1237ValfsTer?
XM_017029261.1:c.3710del	XP_016884750.1:p.Gly1237ValfsTer?
XM_017029262.2:c.3710del	XP_016884751.1:p.Gly1237ValfsTer?
XM_017029263.2:c.2030del	XP_016884752.1:p.Gly677ValfsTer?
NM_000495.5:c.3695del	NP_000486.1:p.Gly1232ValfsTer?
NM_033380.3:c.3695del MANE Select	NP_203699.1:p.Gly1232ValfsTer?