Canonical Allele Identifier: CA2245700277

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221617_7221640delinsTCAAAGGCATCCTGCTCTTTGGCA , CM000679.2:g.7221617_7221640delinsTCAAAGGCATCCTGCTCTTTGGCA	GRCh38
NC_000017.10:g.7124936_7124959delinsTCAAAGGCATCCTGCTCTTTGGCA , CM000679.1:g.7124936_7124959delinsTCAAAGGCATCCTGCTCTTTGGCA	GRCh37
NC_000017.9:g.7065660_7065683delinsTCAAAGGCATCCTGCTCTTTGGCA	NCBI36
NG_007975.1:g.6784_6807delinsTCAAAGGCATCCTGCTCTTTGGCA
NG_008391.2:g.3411_3434delinsTGCCAAAGAGCAGGATGCCTTTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA MANE Select	ENSP00000349297.5:p.Phe186=
ENST00000322910.9:c.*512_*535delinsTCAAAGGCATCCTGCTCTTTGGCA	ENSP00000325395.5:n.*512_*535delinsTCAAAG...
ENST00000350303.9:c.491_514delinsTCAAAGGCATCCTGCTCTTTGGCA	ENSP00000344152.5:p.Phe164=
ENST00000356839.9:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	ENSP00000349297.5:p.Phe186=
ENST00000543245.6:c.626_649delinsTCAAAGGCATCCTGCTCTTTGGCA	ENSP00000438689.2:p.Phe209=
ENST00000577191.5:n.634_657delinsTCAAAGGCATCCTGCTCTTTGGCA
ENST00000577433.5:n.765_788delinsTCAAAGGCATCCTGCTCTTTGGCA
ENST00000577857.5:n.373_396delinsTCAAAGGCATCCTGCTCTTTGGCA
ENST00000579286.5:n.738_761delinsTCAAAGGCATCCTGCTCTTTGGCA
ENST00000579886.2:c.395_418delinsTCAAAGGCATCCTGCTCTTTGGCA	ENSP00000463246.1:p.Phe132=
ENST00000580365.1:n.288_311delinsTCAAAGGCATCCTGCTCTTTGGCA
ENST00000581378.5:c.275_298delinsTCAAAGGCATCCTGCTCTTTGGCA
ENST00000581562.5:n.525-335_525-312delinsTCAAAGGCATCCTGCTCTTTGGCA
ENST00000583312.5:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	ENSP00000467920.1:p.Phe186=
ENST00000583760.1:n.339_362delinsTCAAAGGCATCCTGCTCTTTGGCA
NM_000018.3:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	NP_000009.1:p.Phe186=
NM_001033859.2:c.491_514delinsTCAAAGGCATCCTGCTCTTTGGCA	NP_001029031.1:p.Phe164=
NM_001270447.1:c.626_649delinsTCAAAGGCATCCTGCTCTTTGGCA	NP_001257376.1:p.Phe209=
NM_001270448.1:c.329_352delinsTCAAAGGCATCCTGCTCTTTGGCA	NP_001257377.1:p.Phe110=
XM_006721516.2:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	XP_006721579.2:p.Phe186=
XM_011523829.1:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	XP_011522131.1:p.Phe186=
XM_011523830.1:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	XP_011522132.1:p.Phe186=
XR_934021.1:n.664_687delinsTCAAAGGCATCCTGCTCTTTGGCA
XR_934022.1:n.664_687delinsTCAAAGGCATCCTGCTCTTTGGCA
XR_934023.1:n.664_687delinsTCAAAGGCATCCTGCTCTTTGGCA
XM_006721516.3:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	XP_006721579.2:p.Phe186=
XM_011523829.2:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	XP_011522131.1:p.Phe186=
XM_011523830.2:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	XP_011522132.1:p.Phe186=
XM_024450741.1:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA	XP_024306509.1:p.Phe186=
XR_934021.2:n.616_639delinsTCAAAGGCATCCTGCTCTTTGGCA
XR_934022.2:n.616_639delinsTCAAAGGCATCCTGCTCTTTGGCA
XR_934023.2:n.616_639delinsTCAAAGGCATCCTGCTCTTTGGCA
NM_000018.4:c.557_580delinsTCAAAGGCATCCTGCTCTTTGGCA MANE Select	NP_000009.1:p.Phe186=
NM_001033859.3:c.491_514delinsTCAAAGGCATCCTGCTCTTTGGCA	NP_001029031.1:p.Phe164=
NM_001270447.2:c.626_649delinsTCAAAGGCATCCTGCTCTTTGGCA	NP_001257376.1:p.Phe209=
NM_001270448.2:c.329_352delinsTCAAAGGCATCCTGCTCTTTGGCA	NP_001257377.1:p.Phe110=