Canonical Allele Identifier: CA1519892510

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211428_186211429delinsCT , CM000666.2:g.186211428_186211429delinsCT	GRCh38
NC_000004.11:g.187132582_187132583delinsCT , CM000666.1:g.187132582_187132583delinsCT	GRCh37
NC_000004.10:g.187369576_187369577delinsCT	NCBI36
NG_007965.1:g.24909_24910delinsCT
NG_012095.2:g.7450_7451delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*787_*788delinsCT (CYP4V2) MANE Select	ENSP00000368079.4:n.*787_*788delinsCT
ENST00000502665.1:n.1600_1601delinsCT (CYP4V2)
ENST00000507209.5:n.7063_7064delinsCT (CYP4V2)
ENST00000511608.5:c.201+2156_201+2157delinsCT (KLKB1)
NM_207352.3:c.*787_*788delinsCT (CYP4V2)	NP_997235.3:n.*787_*788delinsCT
XM_005262935.2:c.*787_*788delinsCT (CYP4V2)	XP_005262992.1:n.*787_*788delinsCT
XM_006714184.2:c.*787_*788delinsCT (CYP4V2)	XP_006714247.1:n.*787_*788delinsCT
XM_011531931.1:c.-3281_-3280delinsCT (KLKB1)	XP_011530233.1:n.-3281_-3280delinsCT
XM_011531932.1:c.-3531_-3530delinsCT (KLKB1)	XP_011530234.1:n.-3531_-3530delinsCT
XM_011531933.1:c.-3345_-3344delinsCT (KLKB1)	XP_011530235.1:n.-3345_-3344delinsCT
XM_005262935.4:c.*787_*788delinsCT (CYP4V2)	XP_005262992.1:n.*787_*788delinsCT
XM_017008037.1:c.*787_*788delinsCT (CYP4V2)	XP_016863526.1:n.*787_*788delinsCT
NM_207352.4:c.*787_*788delinsCT (CYP4V2) MANE Select	NP_997235.3:n.*787_*788delinsCT