Canonical Allele Identifier: CA2245711699

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223729_7223730delinsCG , CM000679.2:g.7223729_7223730delinsCG	GRCh38
NC_000017.10:g.7127048_7127049delinsCG , CM000679.1:g.7127048_7127049delinsCG	GRCh37
NC_000017.9:g.7067772_7067773delinsCG	NCBI36
NG_007975.1:g.8896_8897delinsCG
NG_008391.2:g.1321_1322delinsCG
NG_033038.1:g.15815_15816delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1268_1269delinsCG MANE Select	ENSP00000349297.5:p.Ser423=
ENST00000322910.9:c.*1223_*1224delinsCG	ENSP00000325395.5:n.*1223_*1224delinsCG
ENST00000350303.9:c.1202_1203delinsCG	ENSP00000344152.5:p.Ser401=
ENST00000356839.9:c.1268_1269delinsCG	ENSP00000349297.5:p.Ser423=
ENST00000542255.6:c.126_127delinsCG
ENST00000543245.6:c.1337_1338delinsCG	ENSP00000438689.2:p.Ser446=
ENST00000578579.2:n.439_440delinsCG
ENST00000578711.1:n.225_226delinsCG
ENST00000578824.5:n.684_685delinsCG
ENST00000579425.5:n.292_293delinsCG
ENST00000579546.1:c.105_106delinsCG
ENST00000583850.5:n.43_44delinsCG
ENST00000583858.5:c.297_298delinsCG
ENST00000585203.6:n.476_477delinsCG
NM_000018.3:c.1268_1269delinsCG	NP_000009.1:p.Ser423=
NM_001033859.2:c.1202_1203delinsCG	NP_001029031.1:p.Ser401=
NM_001270447.1:c.1337_1338delinsCG	NP_001257376.1:p.Ser446=
NM_001270448.1:c.1040_1041delinsCG	NP_001257377.1:p.Ser347=
XM_006721516.2:c.1268_1269delinsCG	XP_006721579.2:p.Ser423=
XM_011523829.1:c.1268_1269delinsCG	XP_011522131.1:p.Ser423=
XM_011523830.1:c.1268_1269delinsCG	XP_011522132.1:p.Ser423=
XR_934021.1:n.1375_1376delinsCG
XR_934022.1:n.1375_1376delinsCG
XR_934023.1:n.1375_1376delinsCG
XM_006721516.3:c.1268_1269delinsCG	XP_006721579.2:p.Ser423=
XM_011523829.2:c.1268_1269delinsCG	XP_011522131.1:p.Ser423=
XM_011523830.2:c.1268_1269delinsCG	XP_011522132.1:p.Ser423=
XM_024450741.1:c.1268_1269delinsCG	XP_024306509.1:p.Ser423=
XR_934021.2:n.1327_1328delinsCG
XR_934022.2:n.1327_1328delinsCG
XR_934023.2:n.1327_1328delinsCG
NM_000018.4:c.1268_1269delinsCG MANE Select	NP_000009.1:p.Ser423=
NM_001033859.3:c.1202_1203delinsCG	NP_001029031.1:p.Ser401=
NM_001270447.2:c.1337_1338delinsCG	NP_001257376.1:p.Ser446=
NM_001270448.2:c.1040_1041delinsCG	NP_001257377.1:p.Ser347=