Canonical Allele Identifier: CA645540557
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197598del , CM000666.2:g.186197598del GRCh38
NC_000004.11:g.187118752del , CM000666.1:g.187118752del GRCh37
NC_000004.10:g.187355746del NCBI36
NG_007965.1:g.11079del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.670del MANE Select ENSP00000368079.4:p.Tyr224IlefsTer3
ENST00000378802.4:c.670del ENSP00000368079.4:p.Tyr224IlefsTer3
ENST00000507209.5:n.1511del
NM_207352.3:c.670del NP_997235.3:p.Tyr224IlefsTer3
XM_005262935.2:c.670del XP_005262992.1:p.Tyr224IlefsTer3
XM_006714184.2:c.274del XP_006714247.1:p.Tyr92IlefsTer3
XM_005262935.4:c.670del XP_005262992.1:p.Tyr224IlefsTer3
XM_017008037.1:c.274del XP_016863526.1:p.Tyr92IlefsTer3
NM_207352.4:c.670del MANE Select NP_997235.3:p.Tyr224IlefsTer3