Canonical Allele Identifier: CA2450695967

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108620349_108620350delinsTC , CM000685.2:g.108620349_108620350delinsTC	GRCh38
NC_000023.10:g.107863579_107863580delinsTC , CM000685.1:g.107863579_107863580delinsTC	GRCh37
NC_000023.9:g.107750235_107750236delinsTC	NCBI36
NG_011977.1:g.185426_185427delinsTC
NG_011977.2:g.185426_185427delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2600_2601delinsTC MANE Select	ENSP00000331902.7:p.Ile867=
ENST00000361603.7:c.2600_2601delinsTC	ENSP00000354505.2:p.Ile867=
ENST00000328300.10:c.2600_2601delinsTC	ENSP00000331902.6:p.Ile867=
ENST00000361603.6:c.2600_2601delinsTC	ENSP00000354505.2:p.Ile867=
ENST00000483338.1:n.2056_2057delinsTC
NM_000495.4:c.2600_2601delinsTC	NP_000486.1:p.Ile867=
NM_033380.2:c.2600_2601delinsTC	NP_203699.1:p.Ile867=
XM_005262070.2:c.2600_2601delinsTC	XP_005262127.1:p.Ile867=
XM_005262072.3:c.2600_2601delinsTC	XP_005262129.1:p.Ile867=
XM_006724616.2:c.2600_2601delinsTC	XP_006724679.1:p.Ile867=
XM_011530849.1:c.2276_2277delinsTC	XP_011529151.1:p.Ile759=
XM_011530850.1:c.2600_2601delinsTC	XP_011529152.1:p.Ile867=
XM_011530851.1:c.173_174delinsTC	XP_011529153.1:p.Ile58=
XM_011530849.2:c.2615_2616delinsTC	XP_011529151.2:p.Ile872=
XM_017029259.2:c.2615_2616delinsTC	XP_016884748.1:p.Ile872=
XM_017029260.1:c.2615_2616delinsTC	XP_016884749.1:p.Ile872=
XM_017029261.1:c.2615_2616delinsTC	XP_016884750.1:p.Ile872=
XM_017029262.2:c.2615_2616delinsTC	XP_016884751.1:p.Ile872=
XM_017029263.2:c.935_936delinsTC	XP_016884752.1:p.Ile312=
NM_000495.5:c.2600_2601delinsTC	NP_000486.1:p.Ile867=
NM_033380.3:c.2600_2601delinsTC MANE Select	NP_203699.1:p.Ile867=