Canonical Allele Identifier: CA2764867949
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205308_186205309insGTGTATATGTGAA , CM000666.2:g.186205308_186205309insGTGTATATGTGAA GRCh38
NC_000004.11:g.187126462_187126463insGTGTATATGTGAA , CM000666.1:g.187126462_187126463insGTGTATATGTGAA GRCh37
NC_000004.10:g.187363456_187363457insGTGTATATGTGAA NCBI36
NG_007965.1:g.18789_18790insGTGTATATGTGAA
NG_012095.2:g.1330_1331insGTGTATATGTGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+6_1090+7insGTGTATATGTGAA MANE Select ENSP00000368079.4:n.1090+6_1090+7insGTGTATATGTGAA
ENST00000378802.4:c.1090+6_1090+7insGTGTATATGTGAA ENSP00000368079.4:n.1090+6_1090+7insGTGTATATGTGAA
ENST00000502665.1:n.325+6_325+7insGTGTATATGTGAA
ENST00000507209.5:n.5788+6_5788+7insGTGTATATGTGAA
ENST00000513354.5:n.180+6_180+7insGTGTATATGTGAA
NM_207352.3:c.1090+6_1090+7insGTGTATATGTGAA NP_997235.3:n.1090+6_1090+7insGTGTATATGTGAA
XM_005262935.2:c.1090+6_1090+7insGTGTATATGTGAA XP_005262992.1:n.1090+6_1090+7insGTGTATATGTGAA
XM_006714184.2:c.694+6_694+7insGTGTATATGTGAA XP_006714247.1:n.694+6_694+7insGTGTATATGTGAA
XM_005262935.4:c.1090+6_1090+7insGTGTATATGTGAA XP_005262992.1:n.1090+6_1090+7insGTGTATATGTGAA
XM_017008037.1:c.694+6_694+7insGTGTATATGTGAA XP_016863526.1:n.694+6_694+7insGTGTATATGTGAA
NM_207352.4:c.1090+6_1090+7insGTGTATATGTGAA MANE Select NP_997235.3:n.1090+6_1090+7insGTGTATATGTGAA