Canonical Allele Identifier: CA2580100250

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1992452
• ClinVar RCV Id: RCV002814378

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695316del , CM000685.2:g.108695316del	GRCh38
NC_000023.10:g.107938546del , CM000685.1:g.107938546del	GRCh37
NC_000023.9:g.107825202del	NCBI36
NG_011977.1:g.260393del
NG_011977.2:g.260393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4871del MANE Select	ENSP00000331902.7:p.Gly1624ValfsTer?
ENST00000361603.7:c.4853del	ENSP00000354505.2:p.Gly1618ValfsTer?
ENST00000510690.2:n.1365del
ENST00000644079.1:n.1702del
ENST00000328300.10:c.4871del	ENSP00000331902.6:p.Gly1624ValfsTer?
ENST00000361603.6:c.4853del	ENSP00000354505.2:p.Gly1618ValfsTer?
ENST00000504541.1:c.219+395del	ENSP00000424845.1:n.219+395del
ENST00000515658.1:c.325-981del
NM_000495.4:c.4853del	NP_000486.1:p.Gly1618ValfsTer?
NM_033380.2:c.4871del	NP_203699.1:p.Gly1624ValfsTer?
XM_005262070.2:c.4862del	XP_005262127.1:p.Gly1621ValfsTer?
XM_006724616.2:c.4871del	XP_006724679.1:p.Gly1624ValfsTer?
XM_011530849.1:c.4547del	XP_011529151.1:p.Gly1516ValfsTer?
XM_011530851.1:c.2444del	XP_011529153.1:p.Gly815ValfsTer?
XM_011530849.2:c.4886del	XP_011529151.2:p.Gly1629ValfsTer?
XM_017029259.2:c.4877del	XP_016884748.1:p.Gly1626ValfsTer?
XM_017029260.1:c.4868del	XP_016884749.1:p.Gly1623ValfsTer?
XM_017029263.2:c.3206del	XP_016884752.1:p.Gly1069ValfsTer?
NM_000495.5:c.4853del	NP_000486.1:p.Gly1618ValfsTer?
NM_033380.3:c.4871del MANE Select	NP_203699.1:p.Gly1624ValfsTer?