Canonical Allele Identifier: CA2245714616

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224550_7224552delinsTCA , CM000679.2:g.7224550_7224552delinsTCA	GRCh38
NC_000017.10:g.7127869_7127871delinsTCA , CM000679.1:g.7127869_7127871delinsTCA	GRCh37
NC_000017.9:g.7068593_7068595delinsTCA	NCBI36
NG_007975.1:g.9717_9719delinsTCA
NG_008391.2:g.499_501delinsTGA
NG_033038.1:g.14993_14995delinsTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1676_1678delinsTCA MANE Select	ENSP00000349297.5:p.Val559=
ENST00000322910.9:c.*1631_*1633delinsTCA	ENSP00000325395.5:n.*1631_*1633delinsTCA
ENST00000350303.9:c.1610_1612delinsTCA	ENSP00000344152.5:p.Val537=
ENST00000356839.9:c.1676_1678delinsTCA	ENSP00000349297.5:p.Val559=
ENST00000542255.6:c.534_536delinsTCA
ENST00000543245.6:c.1745_1747delinsTCA	ENSP00000438689.2:p.Val582=
ENST00000578319.5:n.257_259delinsTCA
ENST00000578711.1:n.1046_1048delinsTCA
ENST00000578809.5:n.248_250delinsTCA
ENST00000579391.1:n.280_282delinsTCA
ENST00000579425.5:n.792_794delinsTCA
ENST00000579546.1:c.411_413delinsTCA
ENST00000582450.1:n.184_186delinsTCA
ENST00000583074.5:n.297_299delinsTCA
ENST00000583848.5:c.62_64delinsTCA	ENSP00000466487.1:p.Val21=
ENST00000583850.5:n.447_449delinsTCA
ENST00000583858.5:c.607_609delinsTCA
ENST00000585203.6:n.867_869delinsTCA
NM_000018.3:c.1676_1678delinsTCA	NP_000009.1:p.Val559=
NM_001033859.2:c.1610_1612delinsTCA	NP_001029031.1:p.Val537=
NM_001270447.1:c.1745_1747delinsTCA	NP_001257376.1:p.Val582=
NM_001270448.1:c.1448_1450delinsTCA	NP_001257377.1:p.Val483=
XM_006721516.2:c.1676_1678delinsTCA	XP_006721579.2:p.Val559=
XM_011523829.1:c.1574_1576delinsTCA	XP_011522131.1:p.Val525=
XM_011523830.1:c.1574_1576delinsTCA	XP_011522132.1:p.Val525=
XR_934021.1:n.1779_1781delinsTCA
XR_934022.1:n.1685_1687delinsTCA
XR_934023.1:n.1685_1687delinsTCA
XM_006721516.3:c.1676_1678delinsTCA	XP_006721579.2:p.Val559=
XM_011523829.2:c.1574_1576delinsTCA	XP_011522131.1:p.Val525=
XM_011523830.2:c.1574_1576delinsTCA	XP_011522132.1:p.Val525=
XM_024450741.1:c.1664_1666delinsTCA	XP_024306509.1:p.Val555=
XR_934021.2:n.1731_1733delinsTCA
XR_934022.2:n.1637_1639delinsTCA
XR_934023.2:n.1637_1639delinsTCA
NM_000018.4:c.1676_1678delinsTCA MANE Select	NP_000009.1:p.Val559=
NM_001033859.3:c.1610_1612delinsTCA	NP_001029031.1:p.Val537=
NM_001270447.2:c.1745_1747delinsTCA	NP_001257376.1:p.Val582=
NM_001270448.2:c.1448_1450delinsTCA	NP_001257377.1:p.Val483=