Canonical Allele Identifier: CA2579676227

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108595689_108595693del , CM000685.2:g.108595689_108595693del	GRCh38
NC_000023.10:g.107838919_107838923del , CM000685.1:g.107838919_107838923del	GRCh37
NC_000023.9:g.107725575_107725579del	NCBI36
NG_011977.1:g.160766_160770del
NG_011977.2:g.160766_160770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1516+88_1516+92del MANE Select	ENSP00000331902.7:n.1516+88_1516+92del
ENST00000361603.7:c.1516+88_1516+92del	ENSP00000354505.2:n.1516+88_1516+92del
ENST00000328300.10:c.1516+88_1516+92del	ENSP00000331902.6:n.1516+88_1516+92del
ENST00000361603.6:c.1516+88_1516+92del	ENSP00000354505.2:n.1516+88_1516+92del
ENST00000483338.1:n.972+88_972+92del
NM_000495.4:c.1516+88_1516+92del	NP_000486.1:n.1516+88_1516+92del
NM_033380.2:c.1516+88_1516+92del	NP_203699.1:n.1516+88_1516+92del
XM_005262070.2:c.1516+88_1516+92del	XP_005262127.1:n.1516+88_1516+92del
XM_005262072.3:c.1516+88_1516+92del	XP_005262129.1:n.1516+88_1516+92del
XM_006724616.2:c.1516+88_1516+92del	XP_006724679.1:n.1516+88_1516+92del
XM_011530849.1:c.1192+88_1192+92del	XP_011529151.1:n.1192+88_1192+92del
XM_011530850.1:c.1516+88_1516+92del	XP_011529152.1:n.1516+88_1516+92del
XM_011530849.2:c.1531+88_1531+92del	XP_011529151.2:n.1531+88_1531+92del
XM_017029259.2:c.1531+88_1531+92del	XP_016884748.1:n.1531+88_1531+92del
XM_017029260.1:c.1531+88_1531+92del	XP_016884749.1:n.1531+88_1531+92del
XM_017029261.1:c.1531+88_1531+92del	XP_016884750.1:n.1531+88_1531+92del
XM_017029262.2:c.1531+88_1531+92del	XP_016884751.1:n.1531+88_1531+92del
XM_017029263.2:c.-150+88_-150+92del	XP_016884752.1:n.-150+88_-150+92del
NM_000495.5:c.1516+88_1516+92del	NP_000486.1:n.1516+88_1516+92del
NM_033380.3:c.1516+88_1516+92del MANE Select	NP_203699.1:n.1516+88_1516+92del