Canonical Allele Identifier: CA2573159105

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1389189
• ClinVar RCV Id: RCV001887036
• dbSNP Id: rs2147991216

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687505_108687506dup , CM000685.2:g.108687505_108687506dup	GRCh38
NC_000023.10:g.107930735_107930736dup , CM000685.1:g.107930735_107930736dup	GRCh37
NC_000023.9:g.107817391_107817392dup	NCBI36
NG_011977.1:g.252582_252583dup
NG_011977.2:g.252582_252583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4339_4340dup MANE Select	ENSP00000331902.7:p.Gly1448LeufsTer?
ENST00000361603.7:c.4321_4322dup	ENSP00000354505.2:p.Gly1442LeufsTer?
ENST00000510690.2:n.833_834dup
ENST00000328300.10:c.4339_4340dup	ENSP00000331902.6:p.Gly1448LeufsTer?
ENST00000361603.6:c.4321_4322dup	ENSP00000354505.2:p.Gly1442LeufsTer?
ENST00000515658.1:c.135_136dup
NM_000495.4:c.4321_4322dup	NP_000486.1:p.Gly1442LeufsTer?
NM_033380.2:c.4339_4340dup	NP_203699.1:p.Gly1448LeufsTer?
XM_005262070.2:c.4330_4331dup	XP_005262127.1:p.Gly1445LeufsTer?
XM_006724616.2:c.4339_4340dup	XP_006724679.1:p.Gly1448LeufsTer?
XM_011530849.1:c.4015_4016dup	XP_011529151.1:p.Gly1340LeufsTer?
XM_011530851.1:c.1912_1913dup	XP_011529153.1:p.Gly639LeufsTer?
XM_011530849.2:c.4354_4355dup	XP_011529151.2:p.Gly1453LeufsTer?
XM_017029259.2:c.4345_4346dup	XP_016884748.1:p.Gly1450LeufsTer?
XM_017029260.1:c.4336_4337dup	XP_016884749.1:p.Gly1447LeufsTer?
XM_017029263.2:c.2674_2675dup	XP_016884752.1:p.Gly893LeufsTer?
NM_000495.5:c.4321_4322dup	NP_000486.1:p.Gly1442LeufsTer?
NM_033380.3:c.4339_4340dup MANE Select	NP_203699.1:p.Gly1448LeufsTer?