Canonical Allele Identifier: CA2695204080
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199014del , CM000666.2:g.186199014del GRCh38
NC_000004.11:g.187120168del , CM000666.1:g.187120168del GRCh37
NC_000004.10:g.187357162del NCBI36
NG_007965.1:g.12495del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.732del MANE Select ENSP00000368079.4:p.Trp244CysfsTer?
ENST00000378802.4:c.732del ENSP00000368079.4:p.Trp244CysfsTer?
ENST00000507209.5:n.1573del
NM_207352.3:c.732del NP_997235.3:p.Trp244CysfsTer?
XM_005262935.2:c.732del XP_005262992.1:p.Trp244CysfsTer?
XM_006714184.2:c.336del XP_006714247.1:p.Trp112CysfsTer?
XM_005262935.4:c.732del XP_005262992.1:p.Trp244CysfsTer?
XM_017008037.1:c.336del XP_016863526.1:p.Trp112CysfsTer?
NM_207352.4:c.732del MANE Select NP_997235.3:p.Trp244CysfsTer?