Canonical Allele Identifier: CA2567224520
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186198983_186198986del , CM000666.2:g.186198983_186198986del GRCh38
NC_000004.11:g.187120137_187120140del , CM000666.1:g.187120137_187120140del GRCh37
NC_000004.10:g.187357131_187357134del NCBI36
NG_007965.1:g.12464_12467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.701_704del MANE Select ENSP00000368079.4:p.Ile234ArgfsTer?
ENST00000378802.4:c.701_704del ENSP00000368079.4:p.Ile234ArgfsTer?
ENST00000507209.5:n.1542_1545del
NM_207352.3:c.701_704del NP_997235.3:p.Ile234ArgfsTer?
XM_005262935.2:c.701_704del XP_005262992.1:p.Ile234ArgfsTer?
XM_006714184.2:c.305_308del XP_006714247.1:p.Ile102ArgfsTer?
XM_005262935.4:c.701_704del XP_005262992.1:p.Ile234ArgfsTer?
XM_017008037.1:c.305_308del XP_016863526.1:p.Ile102ArgfsTer?
NM_207352.4:c.701_704del MANE Select NP_997235.3:p.Ile234ArgfsTer?