Canonical Allele Identifier: CA1519892794

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211694_186211698delinsCACAT , CM000666.2:g.186211694_186211698delinsCACAT	GRCh38
NC_000004.11:g.187132848_187132852delinsCACAT , CM000666.1:g.187132848_187132852delinsCACAT	GRCh37
NC_000004.10:g.187369842_187369846delinsCACAT	NCBI36
NG_007965.1:g.25175_25179delinsCACAT
NG_012095.2:g.7716_7720delinsCACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1053_*1057delinsCACAT (CYP4V2) MANE Select	ENSP00000368079.4:n.*1053_*1057delinsCACAT
ENST00000502665.1:n.1866_1870delinsCACAT (CYP4V2)
ENST00000507209.5:n.7329_7333delinsCACAT (CYP4V2)
ENST00000511608.5:c.201+2422_201+2426delinsCACAT (KLKB1)
NM_207352.3:c.*1053_*1057delinsCACAT (CYP4V2)	NP_997235.3:n.*1053_*1057delinsCACAT
XM_005262935.2:c.*1053_*1057delinsCACAT (CYP4V2)	XP_005262992.1:n.*1053_*1057delinsCACAT
XM_006714184.2:c.*1053_*1057delinsCACAT (CYP4V2)	XP_006714247.1:n.*1053_*1057delinsCACAT
XM_011531931.1:c.-3015_-3011delinsCACAT (KLKB1)	XP_011530233.1:n.-3015_-3011delinsCACAT
XM_011531932.1:c.-3265_-3261delinsCACAT (KLKB1)	XP_011530234.1:n.-3265_-3261delinsCACAT
XM_011531933.1:c.-3079_-3075delinsCACAT (KLKB1)	XP_011530235.1:n.-3079_-3075delinsCACAT
XM_005262935.4:c.*1053_*1057delinsCACAT (CYP4V2)	XP_005262992.1:n.*1053_*1057delinsCACAT
XM_017008037.1:c.*1053_*1057delinsCACAT (CYP4V2)	XP_016863526.1:n.*1053_*1057delinsCACAT
NM_207352.4:c.*1053_*1057delinsCACAT (CYP4V2) MANE Select	NP_997235.3:n.*1053_*1057delinsCACAT