Canonical Allele Identifier: CA2450689942
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108601898_108601899delinsTC , CM000685.2:g.108601898_108601899delinsTC GRCh38
NC_000023.10:g.107845128_107845129delinsTC , CM000685.1:g.107845128_107845129delinsTC GRCh37
NC_000023.9:g.107731784_107731785delinsTC NCBI36
NG_011977.1:g.166975_166976delinsTC
NG_011977.2:g.166975_166976delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2055_2056delinsTC MANE Select ENSP00000331902.7:p.Leu685=
ENST00000361603.7:c.2055_2056delinsTC ENSP00000354505.2:p.Leu685=
ENST00000328300.10:c.2055_2056delinsTC ENSP00000331902.6:p.Leu685=
ENST00000361603.6:c.2055_2056delinsTC ENSP00000354505.2:p.Leu685=
ENST00000483338.1:n.1511_1512delinsTC
NM_000495.4:c.2055_2056delinsTC NP_000486.1:p.Leu685=
NM_033380.2:c.2055_2056delinsTC NP_203699.1:p.Leu685=
XM_005262070.2:c.2055_2056delinsTC XP_005262127.1:p.Leu685=
XM_005262072.3:c.2055_2056delinsTC XP_005262129.1:p.Leu685=
XM_006724616.2:c.2055_2056delinsTC XP_006724679.1:p.Leu685=
XM_011530849.1:c.1731_1732delinsTC XP_011529151.1:p.Leu577=
XM_011530850.1:c.2055_2056delinsTC XP_011529152.1:p.Leu685=
XM_011530849.2:c.2070_2071delinsTC XP_011529151.2:p.Leu690=
XM_017029259.2:c.2070_2071delinsTC XP_016884748.1:p.Leu690=
XM_017029260.1:c.2070_2071delinsTC XP_016884749.1:p.Leu690=
XM_017029261.1:c.2070_2071delinsTC XP_016884750.1:p.Leu690=
XM_017029262.2:c.2070_2071delinsTC XP_016884751.1:p.Leu690=
XM_017029263.2:c.390_391delinsTC XP_016884752.1:p.Leu130=
NM_000495.5:c.2055_2056delinsTC NP_000486.1:p.Leu685=
NM_033380.3:c.2055_2056delinsTC MANE Select NP_203699.1:p.Leu685=