Canonical Allele Identifier: CA2579676556

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621810del , CM000685.2:g.108621810del	GRCh38
NC_000023.10:g.107865040del , CM000685.1:g.107865040del	GRCh37
NC_000023.9:g.107751696del	NCBI36
NG_011977.1:g.186887del
NG_011977.2:g.186887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2685del MANE Select	ENSP00000331902.7:p.Gly896ValfsTer5
ENST00000361603.7:c.2685del	ENSP00000354505.2:p.Gly896ValfsTer5
ENST00000328300.10:c.2685del	ENSP00000331902.6:p.Gly896ValfsTer5
ENST00000361603.6:c.2685del	ENSP00000354505.2:p.Gly896ValfsTer5
ENST00000483338.1:n.2141del
NM_000495.4:c.2685del	NP_000486.1:p.Gly896ValfsTer5
NM_033380.2:c.2685del	NP_203699.1:p.Gly896ValfsTer5
XM_005262070.2:c.2685del	XP_005262127.1:p.Gly896ValfsTer5
XM_005262072.3:c.2685del	XP_005262129.1:p.Gly896ValfsTer5
XM_006724616.2:c.2685del	XP_006724679.1:p.Gly896ValfsTer5
XM_011530849.1:c.2361del	XP_011529151.1:p.Gly788ValfsTer5
XM_011530850.1:c.2685del	XP_011529152.1:p.Gly896ValfsTer5
XM_011530851.1:c.258del	XP_011529153.1:p.Gly87ValfsTer5
XM_011530849.2:c.2700del	XP_011529151.2:p.Gly901ValfsTer5
XM_017029259.2:c.2700del	XP_016884748.1:p.Gly901ValfsTer5
XM_017029260.1:c.2700del	XP_016884749.1:p.Gly901ValfsTer5
XM_017029261.1:c.2700del	XP_016884750.1:p.Gly901ValfsTer5
XM_017029262.2:c.2700del	XP_016884751.1:p.Gly901ValfsTer5
XM_017029263.2:c.1020del	XP_016884752.1:p.Gly341ValfsTer5
NM_000495.5:c.2685del	NP_000486.1:p.Gly896ValfsTer5
NM_033380.3:c.2685del MANE Select	NP_203699.1:p.Gly896ValfsTer5