Canonical Allele Identifier: CA2450687785

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108595680_108595687delinsGTTTCTCA , CM000685.2:g.108595680_108595687delinsGTTTCTCA	GRCh38
NC_000023.10:g.107838910_107838917delinsGTTTCTCA , CM000685.1:g.107838910_107838917delinsGTTTCTCA	GRCh37
NC_000023.9:g.107725566_107725573delinsGTTTCTCA	NCBI36
NG_011977.1:g.160757_160764delinsGTTTCTCA
NG_011977.2:g.160757_160764delinsGTTTCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1516+79_1516+86delinsGTTTCTCA MANE Select	ENSP00000331902.7:n.1516+79_1516+86delinsGTTTCTCA
ENST00000361603.7:c.1516+79_1516+86delinsGTTTCTCA	ENSP00000354505.2:n.1516+79_1516+86delinsGTTTCTCA
ENST00000328300.10:c.1516+79_1516+86delinsGTTTCTCA	ENSP00000331902.6:n.1516+79_1516+86delinsGTTTCTCA
ENST00000361603.6:c.1516+79_1516+86delinsGTTTCTCA	ENSP00000354505.2:n.1516+79_1516+86delinsGTTTCTCA
ENST00000483338.1:n.972+79_972+86delinsGTTTCTCA
NM_000495.4:c.1516+79_1516+86delinsGTTTCTCA	NP_000486.1:n.1516+79_1516+86delinsGTTTCTCA
NM_033380.2:c.1516+79_1516+86delinsGTTTCTCA	NP_203699.1:n.1516+79_1516+86delinsGTTTCTCA
XM_005262070.2:c.1516+79_1516+86delinsGTTTCTCA	XP_005262127.1:n.1516+79_1516+86delinsGTTTCTCA
XM_005262072.3:c.1516+79_1516+86delinsGTTTCTCA	XP_005262129.1:n.1516+79_1516+86delinsGTTTCTCA
XM_006724616.2:c.1516+79_1516+86delinsGTTTCTCA	XP_006724679.1:n.1516+79_1516+86delinsGTTTCTCA
XM_011530849.1:c.1192+79_1192+86delinsGTTTCTCA	XP_011529151.1:n.1192+79_1192+86delinsGTTTCTCA
XM_011530850.1:c.1516+79_1516+86delinsGTTTCTCA	XP_011529152.1:n.1516+79_1516+86delinsGTTTCTCA
XM_011530849.2:c.1531+79_1531+86delinsGTTTCTCA	XP_011529151.2:n.1531+79_1531+86delinsGTTTCTCA
XM_017029259.2:c.1531+79_1531+86delinsGTTTCTCA	XP_016884748.1:n.1531+79_1531+86delinsGTTTCTCA
XM_017029260.1:c.1531+79_1531+86delinsGTTTCTCA	XP_016884749.1:n.1531+79_1531+86delinsGTTTCTCA
XM_017029261.1:c.1531+79_1531+86delinsGTTTCTCA	XP_016884750.1:n.1531+79_1531+86delinsGTTTCTCA
XM_017029262.2:c.1531+79_1531+86delinsGTTTCTCA	XP_016884751.1:n.1531+79_1531+86delinsGTTTCTCA
XM_017029263.2:c.-150+79_-150+86delinsGTTTCTCA	XP_016884752.1:n.-150+79_-150+86delinsGTTTCTCA
NM_000495.5:c.1516+79_1516+86delinsGTTTCTCA	NP_000486.1:n.1516+79_1516+86delinsGTTTCTCA
NM_033380.3:c.1516+79_1516+86delinsGTTTCTCA MANE Select	NP_203699.1:n.1516+79_1516+86delinsGTTTCTCA