Canonical Allele Identifier: CA2672897705

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186209149-A-AGAGATCCGAGATACTTCCCCAACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209153_186209178dup , CM000666.2:g.186209153_186209178dup	GRCh38
NC_000004.11:g.187130307_187130332dup , CM000666.1:g.187130307_187130332dup	GRCh37
NC_000004.10:g.187367301_187367326dup	NCBI36
NG_007965.1:g.22634_22659dup
NG_012095.2:g.5175_5200dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1286_1311dup (CYP4V2) MANE Select	ENSP00000368079.4:p.Glu438IlefsTer?
ENST00000378802.4:c.1286_1311dup (CYP4V2)	ENSP00000368079.4:p.Glu438IlefsTer?
ENST00000502665.1:n.521_546dup (CYP4V2)
ENST00000507209.5:n.5984_6009dup (CYP4V2)
ENST00000511608.5:c.82_107dup (KLKB1)
ENST00000513354.5:n.376_401dup (CYP4V2)
NM_207352.3:c.1286_1311dup (CYP4V2)	NP_997235.3:p.Glu438IlefsTer?
XM_005262935.2:c.1283_1308dup (CYP4V2)	XP_005262992.1:p.Glu437IlefsTer?
XM_006714184.2:c.890_915dup (CYP4V2)	XP_006714247.1:p.Glu306IlefsTer?
XM_005262935.4:c.1283_1308dup (CYP4V2)	XP_005262992.1:p.Glu437IlefsTer?
XM_017008037.1:c.890_915dup (CYP4V2)	XP_016863526.1:p.Glu306IlefsTer?
NM_207352.4:c.1286_1311dup (CYP4V2) MANE Select	NP_997235.3:p.Glu438IlefsTer?