Canonical Allele Identifier: CA2764875333

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211317_186211318insAGAA , CM000666.2:g.186211317_186211318insAGAA	GRCh38
NC_000004.11:g.187132471_187132472insAGAA , CM000666.1:g.187132471_187132472insAGAA	GRCh37
NC_000004.10:g.187369465_187369466insAGAA	NCBI36
NG_007965.1:g.24798_24799insAGAA
NG_012095.2:g.7339_7340insAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*676_*677insAGAA (CYP4V2) MANE Select	ENSP00000368079.4:n.*676_*677insAGAA
ENST00000502665.1:n.1489_1490insAGAA (CYP4V2)
ENST00000507209.5:n.6952_6953insAGAA (CYP4V2)
ENST00000511608.5:c.201+2045_201+2046insAGAA (KLKB1)
NM_207352.3:c.*676_*677insAGAA (CYP4V2)	NP_997235.3:n.*676_*677insAGAA
XM_005262935.2:c.*676_*677insAGAA (CYP4V2)	XP_005262992.1:n.*676_*677insAGAA
XM_006714184.2:c.*676_*677insAGAA (CYP4V2)	XP_006714247.1:n.*676_*677insAGAA
XM_011531931.1:c.-3392_-3391insAGAA (KLKB1)	XP_011530233.1:n.-3392_-3391insAGAA
XM_011531932.1:c.-3642_-3641insAGAA (KLKB1)	XP_011530234.1:n.-3642_-3641insAGAA
XM_011531933.1:c.-3456_-3455insAGAA (KLKB1)	XP_011530235.1:n.-3456_-3455insAGAA
XM_005262935.4:c.*676_*677insAGAA (CYP4V2)	XP_005262992.1:n.*676_*677insAGAA
XM_017008037.1:c.*676_*677insAGAA (CYP4V2)	XP_016863526.1:n.*676_*677insAGAA
NM_207352.4:c.*676_*677insAGAA (CYP4V2) MANE Select	NP_997235.3:n.*676_*677insAGAA