Canonical Allele Identifier: CA2764868262
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205474_186205477del , CM000666.2:g.186205474_186205477del GRCh38
NC_000004.11:g.187126628_187126631del , CM000666.1:g.187126628_187126631del GRCh37
NC_000004.10:g.187363622_187363625del NCBI36
NG_007965.1:g.18955_18958del
NG_012095.2:g.1496_1499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+172_1090+175del MANE Select ENSP00000368079.4:n.1090+172_1090+175del
ENST00000378802.4:c.1090+172_1090+175del ENSP00000368079.4:n.1090+172_1090+175del
ENST00000502665.1:n.325+172_325+175del
ENST00000507209.5:n.5788+172_5788+175del
ENST00000513354.5:n.180+172_180+175del
NM_207352.3:c.1090+172_1090+175del NP_997235.3:n.1090+172_1090+175del
XM_005262935.2:c.1090+172_1090+175del XP_005262992.1:n.1090+172_1090+175del
XM_006714184.2:c.694+172_694+175del XP_006714247.1:n.694+172_694+175del
XM_005262935.4:c.1090+172_1090+175del XP_005262992.1:n.1090+172_1090+175del
XM_017008037.1:c.694+172_694+175del XP_016863526.1:n.694+172_694+175del
NM_207352.4:c.1090+172_1090+175del MANE Select NP_997235.3:n.1090+172_1090+175del