Canonical Allele Identifier: CA2764868065
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205380del , CM000666.2:g.186205380del GRCh38
NC_000004.11:g.187126534del , CM000666.1:g.187126534del GRCh37
NC_000004.10:g.187363528del NCBI36
NG_007965.1:g.18861del
NG_012095.2:g.1402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+78del MANE Select ENSP00000368079.4:n.1090+78del
ENST00000378802.4:c.1090+78del ENSP00000368079.4:n.1090+78del
ENST00000502665.1:n.325+78del
ENST00000507209.5:n.5788+78del
ENST00000513354.5:n.180+78del
NM_207352.3:c.1090+78del NP_997235.3:n.1090+78del
XM_005262935.2:c.1090+78del XP_005262992.1:n.1090+78del
XM_006714184.2:c.694+78del XP_006714247.1:n.694+78del
XM_005262935.4:c.1090+78del XP_005262992.1:n.1090+78del
XM_017008037.1:c.694+78del XP_016863526.1:n.694+78del
NM_207352.4:c.1090+78del MANE Select NP_997235.3:n.1090+78del