Canonical Allele Identifier: CA2245699001

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220794_7220796delinsTAA , CM000679.2:g.7220794_7220796delinsTAA	GRCh38
NC_000017.10:g.7124113_7124115delinsTAA , CM000679.1:g.7124113_7124115delinsTAA	GRCh37
NC_000017.9:g.7064837_7064839delinsTAA	NCBI36
NG_007975.1:g.5961_5963delinsTAA
NG_008391.2:g.4255_4257delinsTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.306_308delinsTAA MANE Select	ENSP00000349297.5:p.Leu102=
ENST00000322910.9:c.*261_*263delinsTAA	ENSP00000325395.5:n.*261_*263delinsTAA
ENST00000350303.9:c.240_242delinsTAA	ENSP00000344152.5:p.Leu80=
ENST00000356839.9:c.306_308delinsTAA	ENSP00000349297.5:p.Leu102=
ENST00000543245.6:c.375_377delinsTAA	ENSP00000438689.2:p.Leu125=
ENST00000577191.5:n.383_385delinsTAA
ENST00000577433.5:n.514_516delinsTAA
ENST00000577857.5:n.257_259delinsTAA
ENST00000579286.5:n.487_489delinsTAA
ENST00000579886.2:c.202-151_202-149delinsTAA	ENSP00000463246.1:n.202-151_202-149delins...
ENST00000580365.1:n.37_39delinsTAA
ENST00000581378.5:c.5_7delinsTAA
ENST00000581562.5:n.353_355delinsTAA
ENST00000582056.5:n.396_398delinsTAA
ENST00000582166.1:n.194_196delinsTAA
ENST00000582356.5:n.505_507delinsTAA
ENST00000583312.5:c.306_308delinsTAA	ENSP00000467920.1:p.Leu102=
ENST00000584103.5:c.306_308delinsTAA	ENSP00000465353.1:p.Leu102=
NM_000018.3:c.306_308delinsTAA	NP_000009.1:p.Leu102=
NM_001033859.2:c.240_242delinsTAA	NP_001029031.1:p.Leu80=
NM_001270447.1:c.375_377delinsTAA	NP_001257376.1:p.Leu125=
NM_001270448.1:c.78_80delinsTAA	NP_001257377.1:p.Leu26=
XM_006721516.2:c.306_308delinsTAA	XP_006721579.2:p.Leu102=
XM_011523829.1:c.306_308delinsTAA	XP_011522131.1:p.Leu102=
XM_011523830.1:c.306_308delinsTAA	XP_011522132.1:p.Leu102=
XR_934021.1:n.413_415delinsTAA
XR_934022.1:n.413_415delinsTAA
XR_934023.1:n.413_415delinsTAA
XM_006721516.3:c.306_308delinsTAA	XP_006721579.2:p.Leu102=
XM_011523829.2:c.306_308delinsTAA	XP_011522131.1:p.Leu102=
XM_011523830.2:c.306_308delinsTAA	XP_011522132.1:p.Leu102=
XM_024450741.1:c.306_308delinsTAA	XP_024306509.1:p.Leu102=
XR_934021.2:n.365_367delinsTAA
XR_934022.2:n.365_367delinsTAA
XR_934023.2:n.365_367delinsTAA
NM_000018.4:c.306_308delinsTAA MANE Select	NP_000009.1:p.Leu102=
NM_001033859.3:c.240_242delinsTAA	NP_001029031.1:p.Leu80=
NM_001270447.2:c.375_377delinsTAA	NP_001257376.1:p.Leu125=
NM_001270448.2:c.78_80delinsTAA	NP_001257377.1:p.Leu26=