Canonical Allele Identifier: CA2450717230
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681823_108681827delinsCAGGA , CM000685.2:g.108681823_108681827delinsCAGGA GRCh38
NC_000023.10:g.107925053_107925057delinsCAGGA , CM000685.1:g.107925053_107925057delinsCAGGA GRCh37
NC_000023.9:g.107811709_107811713delinsCAGGA NCBI36
NG_011977.1:g.246900_246904delinsCAGGA
NG_011977.2:g.246900_246904delinsCAGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4151_4155delinsCAGGA MANE Select ENSP00000331902.7:p.Pro1384=
ENST00000361603.7:c.4133_4137delinsCAGGA ENSP00000354505.2:p.Pro1378=
ENST00000510690.2:n.645_649delinsCAGGA
ENST00000328300.10:c.4151_4155delinsCAGGA ENSP00000331902.6:p.Pro1384=
ENST00000361603.6:c.4133_4137delinsCAGGA ENSP00000354505.2:p.Pro1378=
ENST00000489230.1:n.554_558delinsCAGGA
NM_000495.4:c.4133_4137delinsCAGGA NP_000486.1:p.Pro1378=
NM_033380.2:c.4151_4155delinsCAGGA NP_203699.1:p.Pro1384=
XM_005262070.2:c.4142_4146delinsCAGGA XP_005262127.1:p.Pro1381=
XM_006724616.2:c.4151_4155delinsCAGGA XP_006724679.1:p.Pro1384=
XM_011530849.1:c.3827_3831delinsCAGGA XP_011529151.1:p.Pro1276=
XM_011530851.1:c.1724_1728delinsCAGGA XP_011529153.1:p.Pro575=
XM_011530849.2:c.4166_4170delinsCAGGA XP_011529151.2:p.Pro1389=
XM_017029259.2:c.4157_4161delinsCAGGA XP_016884748.1:p.Pro1386=
XM_017029260.1:c.4148_4152delinsCAGGA XP_016884749.1:p.Pro1383=
XM_017029263.2:c.2486_2490delinsCAGGA XP_016884752.1:p.Pro829=
NM_000495.5:c.4133_4137delinsCAGGA NP_000486.1:p.Pro1378=
NM_033380.3:c.4151_4155delinsCAGGA MANE Select NP_203699.1:p.Pro1384=