Canonical Allele Identifier: CA2578249743

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210617_186210624del , CM000666.2:g.186210617_186210624del	GRCh38
NC_000004.11:g.187131771_187131778del , CM000666.1:g.187131771_187131778del	GRCh37
NC_000004.10:g.187368765_187368772del	NCBI36
NG_007965.1:g.24098_24105del
NG_012095.2:g.6639_6646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1554_1561del (CYP4V2) MANE Select	ENSP00000368079.4:p.Arg519CysfsTer3
ENST00000378802.4:c.1554_1561del (CYP4V2)	ENSP00000368079.4:p.Arg519CysfsTer3
ENST00000502665.1:n.789_796del (CYP4V2)
ENST00000507209.5:n.6252_6259del (CYP4V2)
ENST00000511608.5:c.201+1345_201+1352del (KLKB1)
ENST00000513354.5:n.644_651del (CYP4V2)
NM_207352.3:c.1554_1561del (CYP4V2)	NP_997235.3:p.Arg519CysfsTer3
XM_005262935.2:c.1551_1558del (CYP4V2)	XP_005262992.1:p.Arg518CysfsTer3
XM_006714184.2:c.1158_1165del (CYP4V2)	XP_006714247.1:p.Arg387CysfsTer3
XM_005262935.4:c.1551_1558del (CYP4V2)	XP_005262992.1:p.Arg518CysfsTer3
XM_017008037.1:c.1158_1165del (CYP4V2)	XP_016863526.1:p.Arg387CysfsTer3
NM_207352.4:c.1554_1561del (CYP4V2) MANE Select	NP_997235.3:p.Arg519CysfsTer3