Canonical Allele Identifier: CA891843695

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 587238
• ClinVar RCV Id: RCV001389182
• dbSNP Id: rs1569509210
• MyVariant Identifiers: chrX:g.107938073del (hg19) ; chrX:g.108694843del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694843del , CM000685.2:g.108694843del	GRCh38
NC_000023.10:g.107938073del , CM000685.1:g.107938073del	GRCh37
NC_000023.9:g.107824729del	NCBI36
NG_011977.1:g.259920del
NG_011977.2:g.259920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4743del MANE Select	ENSP00000331902.7:p.Val1582PhefsTer25
ENST00000361603.7:c.4725del	ENSP00000354505.2:p.Val1576PhefsTer25
ENST00000510690.2:n.1237del
ENST00000644079.1:n.1229del
ENST00000328300.10:c.4743del	ENSP00000331902.6:p.Val1582PhefsTer25
ENST00000361603.6:c.4725del	ENSP00000354505.2:p.Val1576PhefsTer25
ENST00000504541.1:c.141del	ENSP00000424845.1:p.Val48PhefsTer25
ENST00000515658.1:c.325-1454del
NM_000495.4:c.4725del	NP_000486.1:p.Val1576PhefsTer25
NM_033380.2:c.4743del	NP_203699.1:p.Val1582PhefsTer25
XM_005262070.2:c.4734del	XP_005262127.1:p.Val1579PhefsTer25
XM_006724616.2:c.4743del	XP_006724679.1:p.Val1582PhefsTer25
XM_011530849.1:c.4419del	XP_011529151.1:p.Val1474PhefsTer25
XM_011530851.1:c.2316del	XP_011529153.1:p.Val773PhefsTer25
XM_011530849.2:c.4758del	XP_011529151.2:p.Val1587PhefsTer25
XM_017029259.2:c.4749del	XP_016884748.1:p.Val1584PhefsTer25
XM_017029260.1:c.4740del	XP_016884749.1:p.Val1581PhefsTer25
XM_017029263.2:c.3078del	XP_016884752.1:p.Val1027PhefsTer25
NM_000495.5:c.4725del	NP_000486.1:p.Val1576PhefsTer25
NM_033380.3:c.4743del MANE Select	NP_203699.1:p.Val1582PhefsTer25