Canonical Allele Identifier: CA2764868013
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205364_186205369del , CM000666.2:g.186205364_186205369del GRCh38
NC_000004.11:g.187126518_187126523del , CM000666.1:g.187126518_187126523del GRCh37
NC_000004.10:g.187363512_187363517del NCBI36
NG_007965.1:g.18845_18850del
NG_012095.2:g.1386_1391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+62_1090+67del MANE Select ENSP00000368079.4:n.1090+62_1090+67del
ENST00000378802.4:c.1090+62_1090+67del ENSP00000368079.4:n.1090+62_1090+67del
ENST00000502665.1:n.325+62_325+67del
ENST00000507209.5:n.5788+62_5788+67del
ENST00000513354.5:n.180+62_180+67del
NM_207352.3:c.1090+62_1090+67del NP_997235.3:n.1090+62_1090+67del
XM_005262935.2:c.1090+62_1090+67del XP_005262992.1:n.1090+62_1090+67del
XM_006714184.2:c.694+62_694+67del XP_006714247.1:n.694+62_694+67del
XM_005262935.4:c.1090+62_1090+67del XP_005262992.1:n.1090+62_1090+67del
XM_017008037.1:c.694+62_694+67del XP_016863526.1:n.694+62_694+67del
NM_207352.4:c.1090+62_1090+67del MANE Select NP_997235.3:n.1090+62_1090+67del