Canonical Allele Identifier: CA1519892073

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210527_186210538delinsTTGGATAGAATC , CM000666.2:g.186210527_186210538delinsTTGGATAGAATC	GRCh38
NC_000004.11:g.187131681_187131692delinsTTGGATAGAATC , CM000666.1:g.187131681_187131692delinsTTGGATAGAATC	GRCh37
NC_000004.10:g.187368675_187368686delinsTTGGATAGAATC	NCBI36
NG_007965.1:g.24008_24019delinsTTGGATAGAATC
NG_012095.2:g.6549_6560delinsTTGGATAGAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1464_1475delinsTTGGATAGAATC (CYP4V2) MANE Select	ENSP00000368079.4:p.Phe488=
ENST00000378802.4:c.1464_1475delinsTTGGATAGAATC (CYP4V2)	ENSP00000368079.4:p.Phe488=
ENST00000502665.1:n.699_710delinsTTGGATAGAATC (CYP4V2)
ENST00000507209.5:n.6162_6173delinsTTGGATAGAATC (CYP4V2)
ENST00000511608.5:c.201+1255_201+1266delinsTTGGATAGAATC (KLKB1)
ENST00000513354.5:n.554_565delinsTTGGATAGAATC (CYP4V2)
NM_207352.3:c.1464_1475delinsTTGGATAGAATC (CYP4V2)	NP_997235.3:p.Phe488=
XM_005262935.2:c.1461_1472delinsTTGGATAGAATC (CYP4V2)	XP_005262992.1:p.Phe487=
XM_006714184.2:c.1068_1079delinsTTGGATAGAATC (CYP4V2)	XP_006714247.1:p.Phe356=
XM_005262935.4:c.1461_1472delinsTTGGATAGAATC (CYP4V2)	XP_005262992.1:p.Phe487=
XM_017008037.1:c.1068_1079delinsTTGGATAGAATC (CYP4V2)	XP_016863526.1:p.Phe356=
NM_207352.4:c.1464_1475delinsTTGGATAGAATC (CYP4V2) MANE Select	NP_997235.3:p.Phe488=