Canonical Allele Identifier: CA2561100231

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108563917del , CM000685.2:g.108563917del	GRCh38
NC_000023.10:g.107807147del , CM000685.1:g.107807147del	GRCh37
NC_000023.9:g.107693803del	NCBI36
NG_011977.1:g.128994del
NG_011977.2:g.128994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.267del MANE Select	ENSP00000331902.7:p.Gly90GlufsTer?
ENST00000361603.7:c.267del	ENSP00000354505.2:p.Gly90GlufsTer?
ENST00000328300.10:c.267del	ENSP00000331902.6:p.Gly90GlufsTer?
ENST00000361603.6:c.267del	ENSP00000354505.2:p.Gly90GlufsTer?
ENST00000470339.1:n.451del
NM_000495.4:c.267del	NP_000486.1:p.Gly90GlufsTer?
NM_033380.2:c.267del	NP_203699.1:p.Gly90GlufsTer?
XM_005262070.2:c.267del	XP_005262127.1:p.Gly90GlufsTer?
XM_005262072.3:c.267del	XP_005262129.1:p.Gly90GlufsTer?
XM_006724616.2:c.267del	XP_006724679.1:p.Gly90GlufsTer?
XM_011530849.1:c.-58del	XP_011529151.1:n.-58del
XM_011530850.1:c.267del	XP_011529152.1:p.Gly90GlufsTer?
XM_011530849.2:c.282del	XP_011529151.2:p.Gly95GlufsTer?
XM_017029259.2:c.282del	XP_016884748.1:p.Gly95GlufsTer?
XM_017029260.1:c.282del	XP_016884749.1:p.Gly95GlufsTer?
XM_017029261.1:c.282del	XP_016884750.1:p.Gly95GlufsTer?
XM_017029262.2:c.282del	XP_016884751.1:p.Gly95GlufsTer?
NM_000495.5:c.267del	NP_000486.1:p.Gly90GlufsTer?
NM_033380.3:c.267del MANE Select	NP_203699.1:p.Gly90GlufsTer?