Canonical Allele Identifier: CA1519888708
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186204965_186204976delinsCACCAGCGTGCA , CM000666.2:g.186204965_186204976delinsCACCAGCGTGCA GRCh38
NC_000004.11:g.187126119_187126130delinsCACCAGCGTGCA , CM000666.1:g.187126119_187126130delinsCACCAGCGTGCA GRCh37
NC_000004.10:g.187363113_187363124delinsCACCAGCGTGCA NCBI36
NG_007965.1:g.18446_18457delinsCACCAGCGTGCA
NG_012095.2:g.987_998delinsCACCAGCGTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.988-235_988-224delinsCACCAGCGTGCA MANE Select ENSP00000368079.4:n.988-235_988-224delinsCACCAGCGTGCA
ENST00000378802.4:c.988-235_988-224delinsCACCAGCGTGCA ENSP00000368079.4:n.988-235_988-224delinsCACCAGCGTGCA
ENST00000502665.1:n.129_140delinsCACCAGCGTGCA
ENST00000507209.5:n.5451_5462delinsCACCAGCGTGCA
ENST00000513354.5:n.78-235_78-224delinsCACCAGCGTGCA
NM_207352.3:c.988-235_988-224delinsCACCAGCGTGCA NP_997235.3:n.988-235_988-224delinsCACCAGCGTGCA
XM_005262935.2:c.988-235_988-224delinsCACCAGCGTGCA XP_005262992.1:n.988-235_988-224delinsCACCAGCGTGCA
XM_006714184.2:c.592-235_592-224delinsCACCAGCGTGCA XP_006714247.1:n.592-235_592-224delinsCACCAGCGTGCA
XM_005262935.4:c.988-235_988-224delinsCACCAGCGTGCA XP_005262992.1:n.988-235_988-224delinsCACCAGCGTGCA
XM_017008037.1:c.592-235_592-224delinsCACCAGCGTGCA XP_016863526.1:n.592-235_592-224delinsCACCAGCGTGCA
NM_207352.4:c.988-235_988-224delinsCACCAGCGTGCA MANE Select NP_997235.3:n.988-235_988-224delinsCACCAGCGTGCA