Canonical Allele Identifier: CA2764868230
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205440_186205441insACT , CM000666.2:g.186205440_186205441insACT GRCh38
NC_000004.11:g.187126594_187126595insACT , CM000666.1:g.187126594_187126595insACT GRCh37
NC_000004.10:g.187363588_187363589insACT NCBI36
NG_007965.1:g.18921_18922insACT
NG_012095.2:g.1462_1463insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+138_1090+139insACT MANE Select ENSP00000368079.4:n.1090+138_1090+139insACT
ENST00000378802.4:c.1090+138_1090+139insACT ENSP00000368079.4:n.1090+138_1090+139insACT
ENST00000502665.1:n.325+138_325+139insACT
ENST00000507209.5:n.5788+138_5788+139insACT
ENST00000513354.5:n.180+138_180+139insACT
NM_207352.3:c.1090+138_1090+139insACT NP_997235.3:n.1090+138_1090+139insACT
XM_005262935.2:c.1090+138_1090+139insACT XP_005262992.1:n.1090+138_1090+139insACT
XM_006714184.2:c.694+138_694+139insACT XP_006714247.1:n.694+138_694+139insACT
XM_005262935.4:c.1090+138_1090+139insACT XP_005262992.1:n.1090+138_1090+139insACT
XM_017008037.1:c.694+138_694+139insACT XP_016863526.1:n.694+138_694+139insACT
NM_207352.4:c.1090+138_1090+139insACT MANE Select NP_997235.3:n.1090+138_1090+139insACT