Canonical Allele Identifier: CA2982918642

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209117_186209118insAGG , CM000666.2:g.186209117_186209118insAGG	GRCh38
NC_000004.11:g.187130271_187130272insAGG , CM000666.1:g.187130271_187130272insAGG	GRCh37
NC_000004.10:g.187367265_187367266insAGG	NCBI36
NG_007965.1:g.22598_22599insAGG
NG_012095.2:g.5139_5140insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1250_1251insAGG (CYP4V2) MANE Select	ENSP00000368079.4:p.Thr417_Glu418insGly
ENST00000378802.4:c.1250_1251insAGG (CYP4V2)	ENSP00000368079.4:p.Thr417_Glu418insGly
ENST00000502665.1:n.485_486insAGG (CYP4V2)
ENST00000507209.5:n.5948_5949insAGG (CYP4V2)
ENST00000511608.5:c.46_47insAGG (KLKB1)
ENST00000513354.5:n.340_341insAGG (CYP4V2)
NM_207352.3:c.1250_1251insAGG (CYP4V2)	NP_997235.3:p.Thr417_Glu418insGly
XM_005262935.2:c.1247_1248insAGG (CYP4V2)	XP_005262992.1:p.Thr416_Glu417insGly
XM_006714184.2:c.854_855insAGG (CYP4V2)	XP_006714247.1:p.Thr285_Glu286insGly
XM_005262935.4:c.1247_1248insAGG (CYP4V2)	XP_005262992.1:p.Thr416_Glu417insGly
XM_017008037.1:c.854_855insAGG (CYP4V2)	XP_016863526.1:p.Thr285_Glu286insGly
NM_207352.4:c.1250_1251insAGG (CYP4V2) MANE Select	NP_997235.3:p.Thr417_Glu418insGly