Canonical Allele Identifier: CA2579676422
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108603051del , CM000685.2:g.108603051del GRCh38
NC_000023.10:g.107846281del , CM000685.1:g.107846281del GRCh37
NC_000023.9:g.107732937del NCBI36
NG_011977.1:g.168128del
NG_011977.2:g.168128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2234del MANE Select ENSP00000331902.7:p.Pro745GlnfsTer?
ENST00000361603.7:c.2234del ENSP00000354505.2:p.Pro745GlnfsTer?
ENST00000328300.10:c.2234del ENSP00000331902.6:p.Pro745GlnfsTer?
ENST00000361603.6:c.2234del ENSP00000354505.2:p.Pro745GlnfsTer?
ENST00000483338.1:n.1690del
NM_000495.4:c.2234del NP_000486.1:p.Pro745GlnfsTer?
NM_033380.2:c.2234del NP_203699.1:p.Pro745GlnfsTer?
XM_005262070.2:c.2234del XP_005262127.1:p.Pro745GlnfsTer?
XM_005262072.3:c.2234del XP_005262129.1:p.Pro745GlnfsTer?
XM_006724616.2:c.2234del XP_006724679.1:p.Pro745GlnfsTer?
XM_011530849.1:c.1910del XP_011529151.1:p.Pro637GlnfsTer?
XM_011530850.1:c.2234del XP_011529152.1:p.Pro745GlnfsTer?
XM_011530851.1:c.-43del XP_011529153.1:n.-43del
XM_011530849.2:c.2249del XP_011529151.2:p.Pro750GlnfsTer?
XM_017029259.2:c.2249del XP_016884748.1:p.Pro750GlnfsTer?
XM_017029260.1:c.2249del XP_016884749.1:p.Pro750GlnfsTer?
XM_017029261.1:c.2249del XP_016884750.1:p.Pro750GlnfsTer?
XM_017029262.2:c.2249del XP_016884751.1:p.Pro750GlnfsTer?
XM_017029263.2:c.569del XP_016884752.1:p.Pro190GlnfsTer?
NM_000495.5:c.2234del NP_000486.1:p.Pro745GlnfsTer?
NM_033380.3:c.2234del MANE Select NP_203699.1:p.Pro745GlnfsTer?