Canonical Allele Identifier: CA2245715321

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224735_7224751delinsTGCCTGAGCCGCAGGGG , CM000679.2:g.7224735_7224751delinsTGCCTGAGCCGCAGGGG	GRCh38
NC_000017.10:g.7128054_7128070delinsTGCCTGAGCCGCAGGGG , CM000679.1:g.7128054_7128070delinsTGCCTGAGCCGCAGGGG	GRCh37
NC_000017.9:g.7068778_7068794delinsTGCCTGAGCCGCAGGGG	NCBI36
NG_007975.1:g.9902_9918delinsTGCCTGAGCCGCAGGGG
NG_008391.2:g.300_316delinsCCCCTGCGGCTCAGGCA
NG_033038.1:g.14794_14810delinsCCCCTGCGGCTCAGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+21_1751+37delinsTGCCTGAGCCGCAGGGG MANE Select	ENSP00000349297.5:n.1751+21_1751+37delins...
ENST00000322910.9:c.*1706+21_*1706+37delinsTGCCTGAGCCGCAGGGG	ENSP00000325395.5:n.*1706+21_*1706+37deli...
ENST00000350303.9:c.1685+21_1685+37delinsTGCCTGAGCCGCAGGGG	ENSP00000344152.5:n.1685+21_1685+37delins...
ENST00000356839.9:c.1751+21_1751+37delinsTGCCTGAGCCGCAGGGG	ENSP00000349297.5:n.1751+21_1751+37delins...
ENST00000542255.6:c.557_573delinsTGCCTGAGCCGCAGGGG
ENST00000543245.6:c.1820+21_1820+37delinsTGCCTGAGCCGCAGGGG	ENSP00000438689.2:n.1820+21_1820+37delins...
ENST00000578033.1:n.103_119delinsTGCCTGAGCCGCAGGGG
ENST00000578319.5:n.332+21_332+37delinsTGCCTGAGCCGCAGGGG
ENST00000578711.1:n.1231_1247delinsTGCCTGAGCCGCAGGGG
ENST00000578809.5:n.323+21_323+37delinsTGCCTGAGCCGCAGGGG
ENST00000579425.5:n.867+21_867+37delinsTGCCTGAGCCGCAGGGG
ENST00000579546.1:c.486+21_486+37delinsTGCCTGAGCCGCAGGGG
ENST00000583074.5:n.320_336delinsTGCCTGAGCCGCAGGGG
ENST00000583848.5:c.117+21_117+37delinsTGCCTGAGCCGCAGGGG	ENSP00000466487.1:n.117+21_117+37delinsTG...
ENST00000583850.5:n.522+21_522+37delinsTGCCTGAGCCGCAGGGG
ENST00000583858.5:c.682+21_682+37delinsTGCCTGAGCCGCAGGGG
ENST00000585203.6:n.942+21_942+37delinsTGCCTGAGCCGCAGGGG
NM_000018.3:c.1751+21_1751+37delinsTGCCTGAGCCGCAGGGG	NP_000009.1:n.1751+21_1751+37delinsTGCCTG...
NM_001033859.2:c.1685+21_1685+37delinsTGCCTGAGCCGCAGGGG	NP_001029031.1:n.1685+21_1685+37delinsTGC...
NM_001270447.1:c.1820+21_1820+37delinsTGCCTGAGCCGCAGGGG	NP_001257376.1:n.1820+21_1820+37delinsTGC...
NM_001270448.1:c.1523+21_1523+37delinsTGCCTGAGCCGCAGGGG	NP_001257377.1:n.1523+21_1523+37delinsTGC...
XM_006721516.2:c.1699_1715delinsTGCCTGAGCCGCAGGGG	XP_006721579.2:p.Cys567=
XM_011523829.1:c.1597_1613delinsTGCCTGAGCCGCAGGGG	XP_011522131.1:p.Cys533=
XM_011523830.1:c.1649+21_1649+37delinsTGCCTGAGCCGCAGGGG	XP_011522132.1:n.1649+21_1649+37delinsTGC...
XR_934021.1:n.1854+21_1854+37delinsTGCCTGAGCCGCAGGGG
XR_934022.1:n.1760+21_1760+37delinsTGCCTGAGCCGCAGGGG
XR_934023.1:n.1708_1724delinsTGCCTGAGCCGCAGGGG
XM_006721516.3:c.1699_1715delinsTGCCTGAGCCGCAGGGG	XP_006721579.2:p.Cys567=
XM_011523829.2:c.1597_1613delinsTGCCTGAGCCGCAGGGG	XP_011522131.1:p.Cys533=
XM_011523830.2:c.1649+21_1649+37delinsTGCCTGAGCCGCAGGGG	XP_011522132.1:n.1649+21_1649+37delinsTGC...
XM_024450741.1:c.1739+21_1739+37delinsTGCCTGAGCCGCAGGGG	XP_024306509.1:n.1739+21_1739+37delinsTGC...
XR_934021.2:n.1806+21_1806+37delinsTGCCTGAGCCGCAGGGG
XR_934022.2:n.1712+21_1712+37delinsTGCCTGAGCCGCAGGGG
XR_934023.2:n.1660_1676delinsTGCCTGAGCCGCAGGGG
NM_000018.4:c.1751+21_1751+37delinsTGCCTGAGCCGCAGGGG MANE Select	NP_000009.1:n.1751+21_1751+37delinsTGCCTG...
NM_001033859.3:c.1685+21_1685+37delinsTGCCTGAGCCGCAGGGG	NP_001029031.1:n.1685+21_1685+37delinsTGC...
NM_001270447.2:c.1820+21_1820+37delinsTGCCTGAGCCGCAGGGG	NP_001257376.1:n.1820+21_1820+37delinsTGC...
NM_001270448.2:c.1523+21_1523+37delinsTGCCTGAGCCGCAGGGG	NP_001257377.1:n.1523+21_1523+37delinsTGC...