Canonical Allele Identifier: CA2764868288
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205528_186205531del , CM000666.2:g.186205528_186205531del GRCh38
NC_000004.11:g.187126682_187126685del , CM000666.1:g.187126682_187126685del GRCh37
NC_000004.10:g.187363676_187363679del NCBI36
NG_007965.1:g.19009_19012del
NG_012095.2:g.1550_1553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+226_1090+229del MANE Select ENSP00000368079.4:n.1090+226_1090+229del
ENST00000378802.4:c.1090+226_1090+229del ENSP00000368079.4:n.1090+226_1090+229del
ENST00000502665.1:n.325+226_325+229del
ENST00000507209.5:n.5788+226_5788+229del
ENST00000513354.5:n.180+226_180+229del
NM_207352.3:c.1090+226_1090+229del NP_997235.3:n.1090+226_1090+229del
XM_005262935.2:c.1090+226_1090+229del XP_005262992.1:n.1090+226_1090+229del
XM_006714184.2:c.694+226_694+229del XP_006714247.1:n.694+226_694+229del
XM_005262935.4:c.1090+226_1090+229del XP_005262992.1:n.1090+226_1090+229del
XM_017008037.1:c.694+226_694+229del XP_016863526.1:n.694+226_694+229del
NM_207352.4:c.1090+226_1090+229del MANE Select NP_997235.3:n.1090+226_1090+229del