Canonical Allele Identifier: CA2450680670
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108573294_108573295delinsGA , CM000685.2:g.108573294_108573295delinsGA GRCh38
NC_000023.10:g.107816524_107816525delinsGA , CM000685.1:g.107816524_107816525delinsGA GRCh37
NC_000023.9:g.107703180_107703181delinsGA NCBI36
NG_011977.1:g.138371_138372delinsGA
NG_011977.2:g.138371_138372delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.466-280_466-279delinsGA MANE Select ENSP00000331902.7:n.466-280_466-279delinsGA
ENST00000361603.7:c.466-280_466-279delinsGA ENSP00000354505.2:n.466-280_466-279delinsGA
ENST00000328300.10:c.466-280_466-279delinsGA ENSP00000331902.6:n.466-280_466-279delinsGA
ENST00000361603.6:c.466-280_466-279delinsGA ENSP00000354505.2:n.466-280_466-279delinsGA
NM_000495.4:c.466-280_466-279delinsGA NP_000486.1:n.466-280_466-279delinsGA
NM_033380.2:c.466-280_466-279delinsGA NP_203699.1:n.466-280_466-279delinsGA
XM_005262070.2:c.466-280_466-279delinsGA XP_005262127.1:n.466-280_466-279delinsGA
XM_005262072.3:c.466-280_466-279delinsGA XP_005262129.1:n.466-280_466-279delinsGA
XM_006724616.2:c.466-280_466-279delinsGA XP_006724679.1:n.466-280_466-279delinsGA
XM_011530849.1:c.142-280_142-279delinsGA XP_011529151.1:n.142-280_142-279delinsGA
XM_011530850.1:c.466-280_466-279delinsGA XP_011529152.1:n.466-280_466-279delinsGA
XM_011530849.2:c.481-280_481-279delinsGA XP_011529151.2:n.481-280_481-279delinsGA
XM_017029259.2:c.481-280_481-279delinsGA XP_016884748.1:n.481-280_481-279delinsGA
XM_017029260.1:c.481-280_481-279delinsGA XP_016884749.1:n.481-280_481-279delinsGA
XM_017029261.1:c.481-280_481-279delinsGA XP_016884750.1:n.481-280_481-279delinsGA
XM_017029262.2:c.481-280_481-279delinsGA XP_016884751.1:n.481-280_481-279delinsGA
NM_000495.5:c.466-280_466-279delinsGA NP_000486.1:n.466-280_466-279delinsGA
NM_033380.3:c.466-280_466-279delinsGA MANE Select NP_203699.1:n.466-280_466-279delinsGA