Canonical Allele Identifier: CA2847430423

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223913_7223914insCGGGCC , CM000679.2:g.7223913_7223914insCGGGCC	GRCh38
NC_000017.10:g.7127232_7127233insCGGGCC , CM000679.1:g.7127232_7127233insCGGGCC	GRCh37
NC_000017.9:g.7067956_7067957insCGGGCC	NCBI36
NG_007975.1:g.9080_9081insCGGGCC
NG_008391.2:g.1137_1138insGGCCCG
NG_033038.1:g.15631_15632insGGCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1332+38_1332+39insCGGGCC MANE Select	ENSP00000349297.5:n.1332+38_1332+39insCGGGCC
ENST00000322910.9:c.*1287+38_*1287+39insCGGGCC	ENSP00000325395.5:n.*1287+38_*1287+39insCGGGCC
ENST00000350303.9:c.1266+38_1266+39insCGGGCC	ENSP00000344152.5:n.1266+38_1266+39insCGGGCC
ENST00000356839.9:c.1332+38_1332+39insCGGGCC	ENSP00000349297.5:n.1332+38_1332+39insCGGGCC
ENST00000542255.6:c.190+38_190+39insCGGGCC
ENST00000543245.6:c.1401+38_1401+39insCGGGCC	ENSP00000438689.2:n.1401+38_1401+39insCGGGCC
ENST00000578711.1:n.409_410insCGGGCC
ENST00000579425.5:n.394_395insCGGGCC
ENST00000579546.1:c.169+38_169+39insCGGGCC
ENST00000583074.5:n.51+38_51+39insCGGGCC
ENST00000583850.5:n.107+38_107+39insCGGGCC
ENST00000583858.5:c.361+38_361+39insCGGGCC
ENST00000585203.6:n.524-55_524-54insCGGGCC
NM_000018.3:c.1332+38_1332+39insCGGGCC	NP_000009.1:n.1332+38_1332+39insCGGGCC
NM_001033859.2:c.1266+38_1266+39insCGGGCC	NP_001029031.1:n.1266+38_1266+39insCGGGCC
NM_001270447.1:c.1401+38_1401+39insCGGGCC	NP_001257376.1:n.1401+38_1401+39insCGGGCC
NM_001270448.1:c.1104+38_1104+39insCGGGCC	NP_001257377.1:n.1104+38_1104+39insCGGGCC
XM_006721516.2:c.1332+38_1332+39insCGGGCC	XP_006721579.2:n.1332+38_1332+39insCGGGCC
XM_011523829.1:c.1332+38_1332+39insCGGGCC	XP_011522131.1:n.1332+38_1332+39insCGGGCC
XM_011523830.1:c.1332+38_1332+39insCGGGCC	XP_011522132.1:n.1332+38_1332+39insCGGGCC
XR_934021.1:n.1439+38_1439+39insCGGGCC
XR_934022.1:n.1439+38_1439+39insCGGGCC
XR_934023.1:n.1439+38_1439+39insCGGGCC
XM_006721516.3:c.1332+38_1332+39insCGGGCC	XP_006721579.2:n.1332+38_1332+39insCGGGCC
XM_011523829.2:c.1332+38_1332+39insCGGGCC	XP_011522131.1:n.1332+38_1332+39insCGGGCC
XM_011523830.2:c.1332+38_1332+39insCGGGCC	XP_011522132.1:n.1332+38_1332+39insCGGGCC
XM_024450741.1:c.1332+38_1332+39insCGGGCC	XP_024306509.1:n.1332+38_1332+39insCGGGCC
XR_934021.2:n.1391+38_1391+39insCGGGCC
XR_934022.2:n.1391+38_1391+39insCGGGCC
XR_934023.2:n.1391+38_1391+39insCGGGCC
NM_000018.4:c.1332+38_1332+39insCGGGCC MANE Select	NP_000009.1:n.1332+38_1332+39insCGGGCC
NM_001033859.3:c.1266+38_1266+39insCGGGCC	NP_001029031.1:n.1266+38_1266+39insCGGGCC
NM_001270447.2:c.1401+38_1401+39insCGGGCC	NP_001257376.1:n.1401+38_1401+39insCGGGCC
NM_001270448.2:c.1104+38_1104+39insCGGGCC	NP_001257377.1:n.1104+38_1104+39insCGGGCC