Canonical Allele Identifier: CA2450683195
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108581004_108581005delinsGA , CM000685.2:g.108581004_108581005delinsGA GRCh38
NC_000023.10:g.107824234_107824235delinsGA , CM000685.1:g.107824234_107824235delinsGA GRCh37
NC_000023.9:g.107710890_107710891delinsGA NCBI36
NG_011977.1:g.146081_146082delinsGA
NG_011977.2:g.146081_146082delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.913_914delinsGA MANE Select ENSP00000331902.7:p.Glu305=
ENST00000361603.7:c.913_914delinsGA ENSP00000354505.2:p.Glu305=
ENST00000328300.10:c.913_914delinsGA ENSP00000331902.6:p.Glu305=
ENST00000361603.6:c.913_914delinsGA ENSP00000354505.2:p.Glu305=
NM_000495.4:c.913_914delinsGA NP_000486.1:p.Glu305=
NM_033380.2:c.913_914delinsGA NP_203699.1:p.Glu305=
XM_005262070.2:c.913_914delinsGA XP_005262127.1:p.Glu305=
XM_005262072.3:c.913_914delinsGA XP_005262129.1:p.Glu305=
XM_006724616.2:c.913_914delinsGA XP_006724679.1:p.Glu305=
XM_011530849.1:c.589_590delinsGA XP_011529151.1:p.Glu197=
XM_011530850.1:c.913_914delinsGA XP_011529152.1:p.Glu305=
XM_011530849.2:c.928_929delinsGA XP_011529151.2:p.Glu310=
XM_017029259.2:c.928_929delinsGA XP_016884748.1:p.Glu310=
XM_017029260.1:c.928_929delinsGA XP_016884749.1:p.Glu310=
XM_017029261.1:c.928_929delinsGA XP_016884750.1:p.Glu310=
XM_017029262.2:c.928_929delinsGA XP_016884751.1:p.Glu310=
NM_000495.5:c.913_914delinsGA NP_000486.1:p.Glu305=
NM_033380.3:c.913_914delinsGA MANE Select NP_203699.1:p.Glu305=