Canonical Allele Identifier: CA258446
Community Standard Title: NM_033380.3(COL4A5):c.1265del (p.Pro422LeufsTer?)
Gene: COL4A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108591157del , CM000685.2:g.108591157del GRCh38
NC_000023.10:g.107834387del , CM000685.1:g.107834387del GRCh37
NC_000023.9:g.107721043del NCBI36
NG_011977.1:g.156234del
NG_011977.2:g.156234del

Transcript Alleles

HGVS Amino-acid Change
NM_033380.3:c.1265del MANE Select NP_203699.1:p.Pro422LeufsTer?
ENST00000328300.11:c.1265del MANE Select ENSP00000331902.7:p.Pro422LeufsTer?
NM_000495.4:c.1265del NP_000486.1:p.Pro422LeufsTer?
NM_000495.5:c.1265del NP_000486.1:p.Pro422LeufsTer?
NM_033380.2:c.1265del NP_203699.1:p.Pro422LeufsTer?
ENST00000328300.10:c.1265del ENSP00000331902.6:p.Pro422LeufsTer?
ENST00000361603.6:c.1265del ENSP00000354505.2:p.Pro422LeufsTer?
ENST00000361603.7:c.1265del ENSP00000354505.2:p.Pro422LeufsTer?
ENST00000483338.1:n.721del
XM_005262070.2:c.1265del XP_005262127.1:p.Pro422LeufsTer?
XM_005262072.3:c.1265del XP_005262129.1:p.Pro422LeufsTer?
XM_006724616.2:c.1265del XP_006724679.1:p.Pro422LeufsTer?
XM_011530849.1:c.941del XP_011529151.1:p.Pro314LeufsTer?
XM_011530849.2:c.1280del XP_011529151.2:p.Pro427LeufsTer?
XM_011530850.1:c.1265del XP_011529152.1:p.Pro422LeufsTer?
XM_017029259.2:c.1280del XP_016884748.1:p.Pro427LeufsTer?
XM_017029260.1:c.1280del XP_016884749.1:p.Pro427LeufsTer?
XM_017029261.1:c.1280del XP_016884750.1:p.Pro427LeufsTer?
XM_017029262.2:c.1280del XP_016884751.1:p.Pro427LeufsTer?
XM_017029263.2:c.-445del XP_016884752.1:n.-445del
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