Canonical Allele Identifier: CA658824369

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 560705
• ClinVar RCV Id: RCV000678966
• dbSNP Id: rs1569509234
• MyVariant Identifiers: chrX:g.107938119del (hg19) ; chrX:g.108694889del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694889del , CM000685.2:g.108694889del	GRCh38
NC_000023.10:g.107938119del , CM000685.1:g.107938119del	GRCh37
NC_000023.9:g.107824775del	NCBI36
NG_011977.1:g.259966del
NG_011977.2:g.259966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4789del MANE Select	ENSP00000331902.7:p.Asp1597IlefsTer10
ENST00000361603.7:c.4771del	ENSP00000354505.2:p.Asp1591IlefsTer10
ENST00000510690.2:n.1283del
ENST00000644079.1:n.1275del
ENST00000328300.10:c.4789del	ENSP00000331902.6:p.Asp1597IlefsTer10
ENST00000361603.6:c.4771del	ENSP00000354505.2:p.Asp1591IlefsTer10
ENST00000504541.1:c.187del	ENSP00000424845.1:p.Asp63IlefsTer10
ENST00000515658.1:c.325-1408del
NM_000495.4:c.4771del	NP_000486.1:p.Asp1591IlefsTer10
NM_033380.2:c.4789del	NP_203699.1:p.Asp1597IlefsTer10
XM_005262070.2:c.4780del	XP_005262127.1:p.Asp1594IlefsTer10
XM_006724616.2:c.4789del	XP_006724679.1:p.Asp1597IlefsTer10
XM_011530849.1:c.4465del	XP_011529151.1:p.Asp1489IlefsTer10
XM_011530851.1:c.2362del	XP_011529153.1:p.Asp788IlefsTer10
XM_011530849.2:c.4804del	XP_011529151.2:p.Asp1602IlefsTer10
XM_017029259.2:c.4795del	XP_016884748.1:p.Asp1599IlefsTer10
XM_017029260.1:c.4786del	XP_016884749.1:p.Asp1596IlefsTer10
XM_017029263.2:c.3124del	XP_016884752.1:p.Asp1042IlefsTer10
NM_000495.5:c.4771del	NP_000486.1:p.Asp1591IlefsTer10
NM_033380.3:c.4789del MANE Select	NP_203699.1:p.Asp1597IlefsTer10