Canonical Allele Identifier: CA915951315

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 829935
• ClinVar RCV Id: RCV001029889 ; RCV001862426
• dbSNP Id: rs1603328025

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694849_108694850del , CM000685.2:g.108694849_108694850del	GRCh38
NC_000023.10:g.107938079_107938080del , CM000685.1:g.107938079_107938080del	GRCh37
NC_000023.9:g.107824735_107824736del	NCBI36
NG_011977.1:g.259926_259927del
NG_011977.2:g.259926_259927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4749_4750del MANE Select	ENSP00000331902.7:p.His1583GlnfsTer?
ENST00000361603.7:c.4731_4732del	ENSP00000354505.2:p.His1577GlnfsTer?
ENST00000510690.2:n.1243_1244del
ENST00000644079.1:n.1235_1236del
ENST00000328300.10:c.4749_4750del	ENSP00000331902.6:p.His1583GlnfsTer?
ENST00000361603.6:c.4731_4732del	ENSP00000354505.2:p.His1577GlnfsTer?
ENST00000504541.1:c.147_148del	ENSP00000424845.1:p.His49GlnfsTer?
ENST00000515658.1:c.325-1448_325-1447del
NM_000495.4:c.4731_4732del	NP_000486.1:p.His1577GlnfsTer?
NM_033380.2:c.4749_4750del	NP_203699.1:p.His1583GlnfsTer?
XM_005262070.2:c.4740_4741del	XP_005262127.1:p.His1580GlnfsTer?
XM_006724616.2:c.4749_4750del	XP_006724679.1:p.His1583GlnfsTer?
XM_011530849.1:c.4425_4426del	XP_011529151.1:p.His1475GlnfsTer?
XM_011530851.1:c.2322_2323del	XP_011529153.1:p.His774GlnfsTer?
XM_011530849.2:c.4764_4765del	XP_011529151.2:p.His1588GlnfsTer?
XM_017029259.2:c.4755_4756del	XP_016884748.1:p.His1585GlnfsTer?
XM_017029260.1:c.4746_4747del	XP_016884749.1:p.His1582GlnfsTer?
XM_017029263.2:c.3084_3085del	XP_016884752.1:p.His1028GlnfsTer?
NM_000495.5:c.4731_4732del	NP_000486.1:p.His1577GlnfsTer?
NM_033380.3:c.4749_4750del MANE Select	NP_203699.1:p.His1583GlnfsTer?