Canonical Allele Identifier: CA1519918669
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197106_186197108delinsCTT , CM000666.2:g.186197106_186197108delinsCTT GRCh38
NC_000004.11:g.187118260_187118262delinsCTT , CM000666.1:g.187118260_187118262delinsCTT GRCh37
NC_000004.10:g.187355254_187355256delinsCTT NCBI36
NG_007965.1:g.10587_10589delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.580_582delinsCTT MANE Select ENSP00000368079.4:p.Leu194=
ENST00000378802.4:c.580_582delinsCTT ENSP00000368079.4:p.Leu194=
ENST00000507209.5:n.1019_1021delinsCTT
NM_207352.3:c.580_582delinsCTT NP_997235.3:p.Leu194=
XM_005262935.2:c.580_582delinsCTT XP_005262992.1:p.Leu194=
XM_006714184.2:c.184_186delinsCTT XP_006714247.1:p.Leu62=
XM_005262935.4:c.580_582delinsCTT XP_005262992.1:p.Leu194=
XM_017008037.1:c.184_186delinsCTT XP_016863526.1:p.Leu62=
NM_207352.4:c.580_582delinsCTT MANE Select NP_997235.3:p.Leu194=