Canonical Allele Identifier: CA2764868311
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199048_186199049insCAAACCAAACACACCCAACAC , CM000666.2:g.186199048_186199049insCAAACCAAACACACCCAACAC GRCh38
NC_000004.11:g.187120202_187120203insCAAACCAAACACACCCAACAC , CM000666.1:g.187120202_187120203insCAAACCAAACACACCCAACAC GRCh37
NC_000004.10:g.187357196_187357197insCAAACCAAACACACCCAACAC NCBI36
NG_007965.1:g.12529_12530insCAAACCAAACACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.766_767insCAAACCAAACACACCCAACAC MANE Select ENSP00000368079.4:p.Lys256delinsThrAsnGlnThrHisProThrGln
ENST00000378802.4:c.766_767insCAAACCAAACACACCCAACAC ENSP00000368079.4:p.Lys256delinsThrAsnGlnThrHisProThrGln
ENST00000507209.5:n.1607_1608insCAAACCAAACACACCCAACAC
NM_207352.3:c.766_767insCAAACCAAACACACCCAACAC NP_997235.3:p.Lys256delinsThrAsnGlnThrHisProThrGln
XM_005262935.2:c.766_767insCAAACCAAACACACCCAACAC XP_005262992.1:p.Lys256delinsThrAsnGlnThrHisProThrGln
XM_006714184.2:c.370_371insCAAACCAAACACACCCAACAC XP_006714247.1:p.Lys124delinsThrAsnGlnThrHisProThrGln
XM_005262935.4:c.766_767insCAAACCAAACACACCCAACAC XP_005262992.1:p.Lys256delinsThrAsnGlnThrHisProThrGln
XM_017008037.1:c.370_371insCAAACCAAACACACCCAACAC XP_016863526.1:p.Lys124delinsThrAsnGlnThrHisProThrGln
NM_207352.4:c.766_767insCAAACCAAACACACCCAACAC MANE Select NP_997235.3:p.Lys256delinsThrAsnGlnThrHisProThrGln