Canonical Allele Identifier: CA2764868866

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209221_186209222insAAATAAAGGAACAGAAGGAAAAAGGCGAAG , CM000666.2:g.186209221_186209222insAAATAAAGGAACAGAAGGAAAAAGGCGAAG	GRCh38
NC_000004.11:g.187130375_187130376insAAATAAAGGAACAGAAGGAAAAAGGCGAAG , CM000666.1:g.187130375_187130376insAAATAAAGGAACAGAAGGAAAAAGGCGAAG	GRCh37
NC_000004.10:g.187367369_187367370insAAATAAAGGAACAGAAGGAAAAAGGCGAAG	NCBI36
NG_007965.1:g.22702_22703insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
NG_012095.2:g.5243_5244insAAATAAAGGAACAGAAGGAAAAAGGCGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1354_1355insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2) MANE Select	ENSP00000368079.4:p.Arg452delinsGlnIleLysGluGlnLysGluLysGlyGl...
ENST00000378802.4:c.1354_1355insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)	ENSP00000368079.4:p.Arg452delinsGlnIleLysGluGlnLysGluLysGlyGl...
ENST00000502665.1:n.589_590insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)
ENST00000507209.5:n.6052_6053insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)
ENST00000511608.5:c.150_151insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (KLKB1)
ENST00000513354.5:n.444_445insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)
NM_207352.3:c.1354_1355insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)	NP_997235.3:p.Arg452delinsGlnIleLysGluGlnLysGluLysGlyGluGly
XM_005262935.2:c.1351_1352insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)	XP_005262992.1:p.Arg451delinsGlnIleLysGluGlnLysGluLysGlyGluGl...
XM_006714184.2:c.958_959insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)	XP_006714247.1:p.Arg320delinsGlnIleLysGluGlnLysGluLysGlyGluGl...
XM_005262935.4:c.1351_1352insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)	XP_005262992.1:p.Arg451delinsGlnIleLysGluGlnLysGluLysGlyGluGl...
XM_017008037.1:c.958_959insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2)	XP_016863526.1:p.Arg320delinsGlnIleLysGluGlnLysGluLysGlyGluGl...
NM_207352.4:c.1354_1355insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (CYP4V2) MANE Select	NP_997235.3:p.Arg452delinsGlnIleLysGluGlnLysGluLysGlyGluGly