Canonical Allele Identifier: CA2579676891

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108667166del , CM000685.2:g.108667166del	GRCh38
NC_000023.10:g.107910396del , CM000685.1:g.107910396del	GRCh37
NC_000023.9:g.107797052del	NCBI36
NG_011977.1:g.232243del
NG_011977.2:g.232243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3587del MANE Select	ENSP00000331902.7:p.Gly1196AspfsTer?
ENST00000361603.7:c.3587del	ENSP00000354505.2:p.Gly1196AspfsTer?
ENST00000328300.10:c.3587del	ENSP00000331902.6:p.Gly1196AspfsTer?
ENST00000361603.6:c.3587del	ENSP00000354505.2:p.Gly1196AspfsTer?
NM_000495.4:c.3587del	NP_000486.1:p.Gly1196AspfsTer?
NM_033380.2:c.3587del	NP_203699.1:p.Gly1196AspfsTer?
XM_005262070.2:c.3587del	XP_005262127.1:p.Gly1196AspfsTer?
XM_006724616.2:c.3587del	XP_006724679.1:p.Gly1196AspfsTer?
XM_011530849.1:c.3263del	XP_011529151.1:p.Gly1088AspfsTer?
XM_011530850.1:c.3587del	XP_011529152.1:p.Gly1196AspfsTer?
XM_011530851.1:c.1160del	XP_011529153.1:p.Gly387AspfsTer?
XM_011530849.2:c.3602del	XP_011529151.2:p.Gly1201AspfsTer?
XM_017029259.2:c.3602del	XP_016884748.1:p.Gly1201AspfsTer?
XM_017029260.1:c.3602del	XP_016884749.1:p.Gly1201AspfsTer?
XM_017029261.1:c.3602del	XP_016884750.1:p.Gly1201AspfsTer?
XM_017029262.2:c.3602del	XP_016884751.1:p.Gly1201AspfsTer?
XM_017029263.2:c.1922del	XP_016884752.1:p.Gly641AspfsTer?
NM_000495.5:c.3587del	NP_000486.1:p.Gly1196AspfsTer?
NM_033380.3:c.3587del MANE Select	NP_203699.1:p.Gly1196AspfsTer?