Canonical Allele Identifier: CA2764868211
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205431_186205432del , CM000666.2:g.186205431_186205432del GRCh38
NC_000004.11:g.187126585_187126586del , CM000666.1:g.187126585_187126586del GRCh37
NC_000004.10:g.187363579_187363580del NCBI36
NG_007965.1:g.18912_18913del
NG_012095.2:g.1453_1454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+129_1090+130del MANE Select ENSP00000368079.4:n.1090+129_1090+130del
ENST00000378802.4:c.1090+129_1090+130del ENSP00000368079.4:n.1090+129_1090+130del
ENST00000502665.1:n.325+129_325+130del
ENST00000507209.5:n.5788+129_5788+130del
ENST00000513354.5:n.180+129_180+130del
NM_207352.3:c.1090+129_1090+130del NP_997235.3:n.1090+129_1090+130del
XM_005262935.2:c.1090+129_1090+130del XP_005262992.1:n.1090+129_1090+130del
XM_006714184.2:c.694+129_694+130del XP_006714247.1:n.694+129_694+130del
XM_005262935.4:c.1090+129_1090+130del XP_005262992.1:n.1090+129_1090+130del
XM_017008037.1:c.694+129_694+130del XP_016863526.1:n.694+129_694+130del
NM_207352.4:c.1090+129_1090+130del MANE Select NP_997235.3:n.1090+129_1090+130del