Canonical Allele Identifier: CA2764868224
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205440_186205452del , CM000666.2:g.186205440_186205452del GRCh38
NC_000004.11:g.187126594_187126606del , CM000666.1:g.187126594_187126606del GRCh37
NC_000004.10:g.187363588_187363600del NCBI36
NG_007965.1:g.18921_18933del
NG_012095.2:g.1462_1474del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+138_1090+150del MANE Select ENSP00000368079.4:n.1090+138_1090+150del
ENST00000378802.4:c.1090+138_1090+150del ENSP00000368079.4:n.1090+138_1090+150del
ENST00000502665.1:n.325+138_325+150del
ENST00000507209.5:n.5788+138_5788+150del
ENST00000513354.5:n.180+138_180+150del
NM_207352.3:c.1090+138_1090+150del NP_997235.3:n.1090+138_1090+150del
XM_005262935.2:c.1090+138_1090+150del XP_005262992.1:n.1090+138_1090+150del
XM_006714184.2:c.694+138_694+150del XP_006714247.1:n.694+138_694+150del
XM_005262935.4:c.1090+138_1090+150del XP_005262992.1:n.1090+138_1090+150del
XM_017008037.1:c.694+138_694+150del XP_016863526.1:n.694+138_694+150del
NM_207352.4:c.1090+138_1090+150del MANE Select NP_997235.3:n.1090+138_1090+150del