Canonical Allele Identifier: CA2580100247

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1723944
• ClinVar RCV Id: RCV002306499

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694852_108694853delinsA , CM000685.2:g.108694852_108694853delinsA	GRCh38
NC_000023.10:g.107938082_107938083delinsA , CM000685.1:g.107938082_107938083delinsA	GRCh37
NC_000023.9:g.107824738_107824739delinsA	NCBI36
NG_011977.1:g.259929_259930delinsA
NG_011977.2:g.259929_259930delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4752_4753delinsA MANE Select	ENSP00000331902.7:p.Ser1584ArgfsTer23
ENST00000361603.7:c.4734_4735delinsA	ENSP00000354505.2:p.Ser1578ArgfsTer23
ENST00000510690.2:n.1246_1247delinsA
ENST00000644079.1:n.1238_1239delinsA
ENST00000328300.10:c.4752_4753delinsA	ENSP00000331902.6:p.Ser1584ArgfsTer23
ENST00000361603.6:c.4734_4735delinsA	ENSP00000354505.2:p.Ser1578ArgfsTer23
ENST00000504541.1:c.150_151delinsA	ENSP00000424845.1:p.Ser50ArgfsTer23
ENST00000515658.1:c.325-1445_325-1444delinsA
NM_000495.4:c.4734_4735delinsA	NP_000486.1:p.Ser1578ArgfsTer23
NM_033380.2:c.4752_4753delinsA	NP_203699.1:p.Ser1584ArgfsTer23
XM_005262070.2:c.4743_4744delinsA	XP_005262127.1:p.Ser1581ArgfsTer23
XM_006724616.2:c.4752_4753delinsA	XP_006724679.1:p.Ser1584ArgfsTer23
XM_011530849.1:c.4428_4429delinsA	XP_011529151.1:p.Ser1476ArgfsTer23
XM_011530851.1:c.2325_2326delinsA	XP_011529153.1:p.Ser775ArgfsTer23
XM_011530849.2:c.4767_4768delinsA	XP_011529151.2:p.Ser1589ArgfsTer23
XM_017029259.2:c.4758_4759delinsA	XP_016884748.1:p.Ser1586ArgfsTer23
XM_017029260.1:c.4749_4750delinsA	XP_016884749.1:p.Ser1583ArgfsTer23
XM_017029263.2:c.3087_3088delinsA	XP_016884752.1:p.Ser1029ArgfsTer23
NM_000495.5:c.4734_4735delinsA	NP_000486.1:p.Ser1578ArgfsTer23
NM_033380.3:c.4752_4753delinsA MANE Select	NP_203699.1:p.Ser1584ArgfsTer23