Canonical Allele Identifier: CA1519891519

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209312_186209325delinsCTTGATGGTGGGTT , CM000666.2:g.186209312_186209325delinsCTTGATGGTGGGTT	GRCh38
NC_000004.11:g.187130466_187130479delinsCTTGATGGTGGGTT , CM000666.1:g.187130466_187130479delinsCTTGATGGTGGGTT	GRCh37
NC_000004.10:g.187367460_187367473delinsCTTGATGGTGGGTT	NCBI36
NG_007965.1:g.22793_22806delinsCTTGATGGTGGGTT
NG_012095.2:g.5334_5347delinsCTTGATGGTGGGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1405+40_1405+53delinsCTTGATGGTGGGTT (CYP4V2) MANE Select	ENSP00000368079.4:n.1405+40_1405+53delins...
ENST00000378802.4:c.1405+40_1405+53delinsCTTGATGGTGGGTT (CYP4V2)	ENSP00000368079.4:n.1405+40_1405+53delins...
ENST00000502665.1:n.640+40_640+53delinsCTTGATGGTGGGTT (CYP4V2)
ENST00000507209.5:n.6103+40_6103+53delinsCTTGATGGTGGGTT (CYP4V2)
ENST00000511608.5:c.201+40_201+53delinsCTTGATGGTGGGTT (KLKB1)
ENST00000513354.5:n.495+40_495+53delinsCTTGATGGTGGGTT (CYP4V2)
NM_207352.3:c.1405+40_1405+53delinsCTTGATGGTGGGTT (CYP4V2)	NP_997235.3:n.1405+40_1405+53delinsCTTGAT...
XM_005262935.2:c.1402+40_1402+53delinsCTTGATGGTGGGTT (CYP4V2)	XP_005262992.1:n.1402+40_1402+53delinsCTT...
XM_006714184.2:c.1009+40_1009+53delinsCTTGATGGTGGGTT (CYP4V2)	XP_006714247.1:n.1009+40_1009+53delinsCTT...
XM_005262935.4:c.1402+40_1402+53delinsCTTGATGGTGGGTT (CYP4V2)	XP_005262992.1:n.1402+40_1402+53delinsCTT...
XM_017008037.1:c.1009+40_1009+53delinsCTTGATGGTGGGTT (CYP4V2)	XP_016863526.1:n.1009+40_1009+53delinsCTT...
NM_207352.4:c.1405+40_1405+53delinsCTTGATGGTGGGTT (CYP4V2) MANE Select	NP_997235.3:n.1405+40_1405+53delinsCTTGAT...