Canonical Allele Identifier: CA2764867922

Gene: CYP4V2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205202_186205206del , CM000666.2:g.186205202_186205206del	GRCh38
NC_000004.11:g.187126356_187126360del , CM000666.1:g.187126356_187126360del	GRCh37
NC_000004.10:g.187363350_187363354del	NCBI36
NG_007965.1:g.18683_18687del
NG_012095.2:g.1224_1228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.990_994del MANE Select	ENSP00000368079.4:p.His331TyrfsTer16
ENST00000378802.4:c.990_994del	ENSP00000368079.4:p.His331TyrfsTer16
ENST00000502665.1:n.225_229del
ENST00000507209.5:n.5688_5692del
ENST00000513354.5:n.80_84del
NM_207352.3:c.990_994del	NP_997235.3:p.His331TyrfsTer16
XM_005262935.2:c.990_994del	XP_005262992.1:p.His331TyrfsTer16
XM_006714184.2:c.594_598del	XP_006714247.1:p.His199TyrfsTer16
XM_005262935.4:c.990_994del	XP_005262992.1:p.His331TyrfsTer16
XM_017008037.1:c.594_598del	XP_016863526.1:p.His199TyrfsTer16
NM_207352.4:c.990_994del MANE Select	NP_997235.3:p.His331TyrfsTer16