Canonical Allele Identifier: CA10654932

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 369963
• ClinVar RCV Id: RCV000408894
• dbSNP Id: rs1057516203
• MyVariant Identifiers: chrX:g.107938093del (hg19) ; chrX:g.108694863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694863del , CM000685.2:g.108694863del	GRCh38
NC_000023.10:g.107938093del , CM000685.1:g.107938093del	GRCh37
NC_000023.9:g.107824749del	NCBI36
NG_011977.1:g.259940del
NG_011977.2:g.259940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4763del MANE Select	ENSP00000331902.7:p.Gln1588ArgfsTer19
ENST00000361603.7:c.4745del	ENSP00000354505.2:p.Gln1582ArgfsTer19
ENST00000510690.2:n.1257del
ENST00000644079.1:n.1249del
ENST00000328300.10:c.4763del	ENSP00000331902.6:p.Gln1588ArgfsTer19
ENST00000361603.6:c.4745del	ENSP00000354505.2:p.Gln1582ArgfsTer19
ENST00000504541.1:c.161del	ENSP00000424845.1:p.Gln54ArgfsTer19
ENST00000515658.1:c.325-1434del
NM_000495.4:c.4745del	NP_000486.1:p.Gln1582ArgfsTer19
NM_033380.2:c.4763del	NP_203699.1:p.Gln1588ArgfsTer19
XM_005262070.2:c.4754del	XP_005262127.1:p.Gln1585ArgfsTer19
XM_006724616.2:c.4763del	XP_006724679.1:p.Gln1588ArgfsTer19
XM_011530849.1:c.4439del	XP_011529151.1:p.Gln1480ArgfsTer19
XM_011530851.1:c.2336del	XP_011529153.1:p.Gln779ArgfsTer19
XM_011530849.2:c.4778del	XP_011529151.2:p.Gln1593ArgfsTer19
XM_017029259.2:c.4769del	XP_016884748.1:p.Gln1590ArgfsTer19
XM_017029260.1:c.4760del	XP_016884749.1:p.Gln1587ArgfsTer19
XM_017029263.2:c.3098del	XP_016884752.1:p.Gln1033ArgfsTer19
NM_000495.5:c.4745del	NP_000486.1:p.Gln1582ArgfsTer19
NM_033380.3:c.4763del MANE Select	NP_203699.1:p.Gln1588ArgfsTer19