Canonical Allele Identifier: CA1519919440

Gene: CYP4V2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197605_186197615delinsAAATGGAGTCC , CM000666.2:g.186197605_186197615delinsAAATGGAGTCC	GRCh38
NC_000004.11:g.187118759_187118769delinsAAATGGAGTCC , CM000666.1:g.187118759_187118769delinsAAATGGAGTCC	GRCh37
NC_000004.10:g.187355753_187355763delinsAAATGGAGTCC	NCBI36
NG_007965.1:g.11086_11096delinsAAATGGAGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.674+3_674+13delinsAAATGGAGTCC MANE Select	ENSP00000368079.4:n.674+3_674+13delinsAAATGGAGTCC
ENST00000378802.4:c.674+3_674+13delinsAAATGGAGTCC	ENSP00000368079.4:n.674+3_674+13delinsAAATGGAGTCC
ENST00000507209.5:n.1515+3_1515+13delinsAAATGGAGTCC
NM_207352.3:c.674+3_674+13delinsAAATGGAGTCC	NP_997235.3:n.674+3_674+13delinsAAATGGAGTCC
XM_005262935.2:c.674+3_674+13delinsAAATGGAGTCC	XP_005262992.1:n.674+3_674+13delinsAAATGGAGTCC
XM_006714184.2:c.278+3_278+13delinsAAATGGAGTCC	XP_006714247.1:n.278+3_278+13delinsAAATGGAGTCC
XM_005262935.4:c.674+3_674+13delinsAAATGGAGTCC	XP_005262992.1:n.674+3_674+13delinsAAATGGAGTCC
XM_017008037.1:c.278+3_278+13delinsAAATGGAGTCC	XP_016863526.1:n.278+3_278+13delinsAAATGGAGTCC
NM_207352.4:c.674+3_674+13delinsAAATGGAGTCC MANE Select	NP_997235.3:n.674+3_674+13delinsAAATGGAGTCC