Canonical Allele Identifier: CA2450679223

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108568643_108568644delinsTC , CM000685.2:g.108568643_108568644delinsTC	GRCh38
NC_000023.10:g.107811873_107811874delinsTC , CM000685.1:g.107811873_107811874delinsTC	GRCh37
NC_000023.9:g.107698529_107698530delinsTC	NCBI36
NG_011977.1:g.133720_133721delinsTC
NG_011977.2:g.133720_133721delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.291_292delinsTC MANE Select	ENSP00000331902.7:p.Leu97=
ENST00000361603.7:c.291_292delinsTC	ENSP00000354505.2:p.Leu97=
ENST00000328300.10:c.291_292delinsTC	ENSP00000331902.6:p.Leu97=
ENST00000361603.6:c.291_292delinsTC	ENSP00000354505.2:p.Leu97=
ENST00000470339.1:n.475_476delinsTC
NM_000495.4:c.291_292delinsTC	NP_000486.1:p.Leu97=
NM_033380.2:c.291_292delinsTC	NP_203699.1:p.Leu97=
XM_005262070.2:c.291_292delinsTC	XP_005262127.1:p.Leu97=
XM_005262072.3:c.291_292delinsTC	XP_005262129.1:p.Leu97=
XM_006724616.2:c.291_292delinsTC	XP_006724679.1:p.Leu97=
XM_011530849.1:c.-34_-33delinsTC	XP_011529151.1:n.-34_-33delinsTC
XM_011530850.1:c.291_292delinsTC	XP_011529152.1:p.Leu97=
XM_011530849.2:c.306_307delinsTC	XP_011529151.2:p.Leu102=
XM_017029259.2:c.306_307delinsTC	XP_016884748.1:p.Leu102=
XM_017029260.1:c.306_307delinsTC	XP_016884749.1:p.Leu102=
XM_017029261.1:c.306_307delinsTC	XP_016884750.1:p.Leu102=
XM_017029262.2:c.306_307delinsTC	XP_016884751.1:p.Leu102=
NM_000495.5:c.291_292delinsTC	NP_000486.1:p.Leu97=
NM_033380.3:c.291_292delinsTC MANE Select	NP_203699.1:p.Leu97=