Canonical Allele Identifier: CA2578249693

Gene: CYP4V2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205288del , CM000666.2:g.186205288del	GRCh38
NC_000004.11:g.187126442del , CM000666.1:g.187126442del	GRCh37
NC_000004.10:g.187363436del	NCBI36
NG_007965.1:g.18769del
NG_012095.2:g.1310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1076del MANE Select	ENSP00000368079.4:p.Leu359TrpfsTer14
ENST00000378802.4:c.1076del	ENSP00000368079.4:p.Leu359TrpfsTer14
ENST00000502665.1:n.311del
ENST00000507209.5:n.5774del
ENST00000513354.5:n.166del
NM_207352.3:c.1076del	NP_997235.3:p.Leu359TrpfsTer14
XM_005262935.2:c.1076del	XP_005262992.1:p.Leu359TrpfsTer14
XM_006714184.2:c.680del	XP_006714247.1:p.Leu227TrpfsTer14
XM_005262935.4:c.1076del	XP_005262992.1:p.Leu359TrpfsTer14
XM_017008037.1:c.680del	XP_016863526.1:p.Leu227TrpfsTer14
NM_207352.4:c.1076del MANE Select	NP_997235.3:p.Leu359TrpfsTer14