Canonical Allele Identifier: CA1519891415

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209116_186209117delinsAC , CM000666.2:g.186209116_186209117delinsAC	GRCh38
NC_000004.11:g.187130270_187130271delinsAC , CM000666.1:g.187130270_187130271delinsAC	GRCh37
NC_000004.10:g.187367264_187367265delinsAC	NCBI36
NG_007965.1:g.22597_22598delinsAC
NG_012095.2:g.5138_5139delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1249_1250delinsAC (CYP4V2) MANE Select	ENSP00000368079.4:p.Thr417=
ENST00000378802.4:c.1249_1250delinsAC (CYP4V2)	ENSP00000368079.4:p.Thr417=
ENST00000502665.1:n.484_485delinsAC (CYP4V2)
ENST00000507209.5:n.5947_5948delinsAC (CYP4V2)
ENST00000511608.5:c.45_46delinsAC (KLKB1)
ENST00000513354.5:n.339_340delinsAC (CYP4V2)
NM_207352.3:c.1249_1250delinsAC (CYP4V2)	NP_997235.3:p.Thr417=
XM_005262935.2:c.1246_1247delinsAC (CYP4V2)	XP_005262992.1:p.Thr416=
XM_006714184.2:c.853_854delinsAC (CYP4V2)	XP_006714247.1:p.Thr285=
XM_005262935.4:c.1246_1247delinsAC (CYP4V2)	XP_005262992.1:p.Thr416=
XM_017008037.1:c.853_854delinsAC (CYP4V2)	XP_016863526.1:p.Thr285=
NM_207352.4:c.1249_1250delinsAC (CYP4V2) MANE Select	NP_997235.3:p.Thr417=